The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
The condition of being heterozygous for hemoglobin S.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
A compound formed by the combination of hemoglobin and oxygen. It is a complex in which the oxygen is bound directly to the iron without causing a change from the ferrous to the ferric state.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Minor hemoglobin components of human erythrocytes designated A1a, A1b, and A1c. Hemoglobin A1c is most important since its sugar moiety is glucose covalently bound to the terminal amino acid of the beta chain. Since normal glycohemoglobin concentrations exclude marked blood glucose fluctuations over the preceding three to four weeks, the concentration of glycosylated hemoglobin A is a more reliable index of the blood sugar average over a long period of time.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
Agents used to prevent or reverse the pathological events leading to sickling of erythrocytes in sickle cell conditions.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A family of hemoglobin-like proteins found in BACTERIA; PLANTS; and unicellular eukaryotes. Truncated hemoglobins are distantly related to vertebrate hemoglobins and are typically shorter than vertebrate hemoglobins by 20-40 residues.
Measurement of hemoglobin concentration in blood.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Substances that are used in place of blood, for example, as an alternative to BLOOD TRANSFUSIONS after blood loss to restore BLOOD VOLUME and oxygen-carrying capacity to the blood circulation, or to perfuse isolated organs.
A highly anionic organic phosphate which is present in human red blood cells at about the same molar ratio as hemoglobin. It binds to deoxyhemoglobin but not the oxygenated form, therefore diminishing the oxygen affinity of hemoglobin. This is essential in enabling hemoglobin to unload oxygen in tissue capillaries. It is also an intermediate in the conversion of 3-phosphoglycerate to 2-phosphoglycerate by phosphoglycerate mutase (EC 5.4.2.1). (From Stryer Biochemistry, 4th ed, p160; Enzyme Nomenclature, 1992, p508)
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.
An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
Glycoprotein hormone, secreted chiefly by the KIDNEY in the adult and the LIVER in the FETUS, that acts on erythroid stem cells of the BONE MARROW to stimulate proliferation and differentiation.
Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria.
The number of RETICULOCYTES per unit volume of BLOOD. The values are expressed as a percentage of the ERYTHROCYTE COUNT or in the form of an index ("corrected reticulocyte index"), which attempts to account for the number of circulating erythrocytes.
Carbon monoxide (CO). A poisonous colorless, odorless, tasteless gas. It combines with hemoglobin to form carboxyhemoglobin, which has no oxygen carrying capacity. The resultant oxygen deprivation causes headache, dizziness, decreased pulse and respiratory rates, unconsciousness, and death. (From Merck Index, 11th ed)
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
Agents which improve the quality of the blood, increasing the hemoglobin level and the number of erythrocytes. They are used in the treatment of anemias.
Complexing agent for removal of traces of heavy metal ions. It acts also as a hypocalcemic agent.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.
Plasma glycoproteins that form a stable complex with hemoglobin to aid the recycling of heme iron. They are encoded in man by a gene on the short arm of chromosome 16.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.
The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.
Electrophoresis applied to BLOOD PROTEINS.
An island in the Greater Antilles in the West Indies. Its capital is Kingston. It was discovered in 1494 by Columbus and was a Spanish colony 1509-1655 until captured by the English. Its flourishing slave trade was abolished in the 19th century. It was a British colony 1655-1958 and a territory of the West Indies Federation 1958-62. It achieved full independence in 1962. The name is from the Arawak Xaymaca, rich in springs or land of springs. (From Webster's New Geographical Dictionary, 1988, p564 & Room, Brewer's Dictionary of Names, 1992, p267)
The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine.
A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha or beta chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis.
Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome.
Chloro(7,12-diethenyl-3,8,13,17-tetramethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N(21),N(22),N(23),N(24)) ferrate(2-) dihydrogen.
The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. They are seen in thalassemias, enzymopathies, hemoglobinopathies, and after splenectomy.
The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.
Tests used in the analysis of the hemic system.
A conjugated protein which is the oxygen-transporting pigment of muscle. It is made up of one globin polypeptide chain and one heme group.
The art or process of comparing photometrically the relative intensities of the light in different parts of the spectrum.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
Electrophoresis in which cellulose acetate is the diffusion medium.
The rate dynamics in chemical or physical systems.
The PROTEIN SUBUNITS that comprise multimeric HEMOGLOBINS.
An increase in the total red cell mass of the blood. (Dorland, 27th ed)
Proteins that contain an iron-porphyrin, or heme, prosthetic group resembling that of hemoglobin. (From Lehninger, Principles of Biochemistry, 1982, p480)
The number of LEUKOCYTES and ERYTHROCYTES per unit volume in a sample of venous BLOOD. A complete blood count (CBC) also includes measurement of the HEMOGLOBIN; HEMATOCRIT; and ERYTHROCYTE INDICES.
The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA and POLYCYTHEMIA.
A phylum of metazoan invertebrates comprising the segmented worms, and including marine annelids (POLYCHAETA), freshwater annelids, earthworms (OLIGOCHAETA), and LEECHES. Only the leeches are of medical interest. (Dorland, 27th ed)
Stable iron atoms that have the same atomic number as the element iron, but differ in atomic weight. Fe-54, 57, and 58 are stable iron isotopes.
Elements of limited time intervals, contributing to particular results or situations.
Chemical bond cleavage reactions resulting from absorption of radiant energy.
Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes.
A class of annelid worms with few setae per segment. It includes the earthworms such as Lumbricus and Eisenia.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
The formation of clumps of RED BLOOD CELLS under low or non-flow conditions, resulting from the attraction forces between the red blood cells. The cells adhere to each other in rouleaux aggregates. Slight mechanical force, such as occurs in the circulation, is enough to disperse these aggregates. Stronger or weaker than normal aggregation may result from a variety of effects in the ERYTHROCYTE MEMBRANE or in BLOOD PLASMA. The degree of aggregation is affected by ERYTHROCYTE DEFORMABILITY, erythrocyte membrane sialylation, masking of negative surface charge by plasma proteins, etc. BLOOD VISCOSITY and the ERYTHROCYTE SEDIMENTATION RATE are affected by the amount of erythrocyte aggregation and are parameters used to measure the aggregation.
Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.
Glucose in blood.
Volume of circulating ERYTHROCYTES . It is usually measured by RADIOISOTOPE DILUTION TECHNIQUE.
An individual in which both alleles at a given locus are identical.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
The determination of oxygen-hemoglobin saturation of blood either by withdrawing a sample and passing it through a classical photoelectric oximeter or by electrodes attached to some translucent part of the body like finger, earlobe, or skin fold. It includes non-invasive oxygen monitoring by pulse oximetry.
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
A noninvasive technique that uses the differential absorption properties of hemoglobin and myoglobin to evaluate tissue oxygenation and indirectly can measure regional hemodynamics and blood flow. Near-infrared light (NIR) can propagate through tissues and at particular wavelengths is differentially absorbed by oxygenated vs. deoxygenated forms of hemoglobin and myoglobin. Illumination of intact tissue with NIR allows qualitative assessment of changes in the tissue concentration of these molecules. The analysis is also used to determine body composition.
A free radical gas produced endogenously by a variety of mammalian cells, synthesized from ARGININE by NITRIC OXIDE SYNTHASE. Nitric oxide is one of the ENDOTHELIUM-DEPENDENT RELAXING FACTORS released by the vascular endothelium and mediates VASODILATION. It also inhibits platelet aggregation, induces disaggregation of aggregated platelets, and inhibits platelet adhesion to the vascular endothelium. Nitric oxide activates cytosolic GUANYLATE CYCLASE and thus elevates intracellular levels of CYCLIC GMP.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
The deformation and flow behavior of BLOOD and its elements i.e., PLASMA; ERYTHROCYTES; WHITE BLOOD CELLS; and BLOOD PLATELETS.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).
An amino sugar formed when glucose non-enzymatically reacts with the N-terminal amino group of proteins. The fructose moiety is derived from glucose by the "classical" Amadori rearrangement.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Inorganic or organic compounds that contain divalent iron.
The pressure that would be exerted by one component of a mixture of gases if it were present alone in a container. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)
Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
Proteins prepared by recombinant DNA technology.
The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.
The modification of the reactivity of ENZYMES by the binding of effectors to sites (ALLOSTERIC SITES) on the enzymes other than the substrate BINDING SITES.
Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.
A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.
Porphyrins with four methyl, two vinyl, and two propionic acid side chains attached to the pyrrole rings. Protoporphyrin IX occurs in hemoglobin, myoglobin, and most of the cytochromes.
A genus of gram-negative, aerobic or microaerophilic, colorless filaments. It is nonfruiting, motile by gliding, and found in freshwater sediments and cow dung. One species (V. stercoraria) is considered morphologically to be a streptobacillus. That species is strictly aerobic and produces a homodimeric bacterial hemoglobin, especially under oxygen-limited growth conditions. (From Bergey's Manual of Determinative Bacteriology, 9th ed)
Organic salts of cyanic acid containing the -OCN radical.
An infant during the first month after birth.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A member of the beta-globin family. In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11. Two delta-globin chains along with two alpha-globin chains form HEMOGLOBIN A2 which makes up about 3% of the HEMOGLOBIN in adults.
A class of marine annelids including sandworms, tube worms, clamworms, and fire worms. It includes also the genus Myxicola infundibulum.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.
Reduction of blood viscosity usually by the addition of cell free solutions. Used clinically (1) in states of impaired microcirculation, (2) for replacement of intraoperative blood loss without homologous blood transfusion, and (3) in cardiopulmonary bypass and hypothermia.
A class in the phylum MOLLUSCA comprised of mussels; clams; OYSTERS; COCKLES; and SCALLOPS. They are characterized by a bilaterally symmetrical hinged shell and a muscular foot used for burrowing and anchoring.
The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.
Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.
A clinical manifestation consisting of an unnatural paleness of the skin.
A family of nonbiting midges, in the order DIPTERA. Salivary glands of the genus Chironomus are used in studies of cellular genetics and biochemistry.
The circulation of the BLOOD through the MICROVASCULAR NETWORK.
An individual having different alleles at one or more loci regarding a specific character.
A bile pigment that is a degradation product of HEME.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Separation technique in which the stationary phase consists of ion exchange resins. The resins contain loosely held small ions that easily exchange places with other small ions of like charge present in solutions washed over the resins.
The study of the deformation and flow of matter, usually liquids or fluids, and of the plastic flow of solids. The concept covers consistency, dilatancy, liquefaction, resistance to flow, shearing, thixotrophy, and VISCOSITY.
Surgical procedure involving either partial or entire removal of the spleen.
Diazo derivatives of aniline, used as a reagent for sugars, ketones, and aldehydes. (Dorland, 28th ed)
Compounds formed by the joining of smaller, usually repeating, units linked by covalent bonds. These compounds often form large macromolecules (e.g., BIOPOLYMERS; PLASTICS).
A vertical distance measured from a known level on the surface of a planet or other celestial body.
Pathologic inclusions occurring in erythrocytes.
Iron or iron compounds used in foods or as food. Dietary iron is important in oxygen transport and the synthesis of the iron-porphyrin proteins hemoglobin, myoglobin, cytochromes, and cytochrome oxidase. Insufficient amounts of dietary iron can lead to iron-deficiency anemia.
A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.
A republic in western Africa, south of NIGER between BENIN and CAMEROON. Its capital is Abuja.
A complex blood group system having pairs of alternate antigens and amorphic genes, but also subject to a dominant independently segregating repressor.
Analysis of the intensity of Raman scattering of monochromatic light as a function of frequency of the scattered light.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
An essential amino acid that is required for the production of HISTAMINE.
An examination of chemicals in the blood.
High molecular weight (1,500,000 to 3,000,000) hemoglobins found in the plasma of many polychete and oligochete annelid worms and various mollusks. They bind one mole of oxygen per heme and function as oxygen carriers.
State of the body in relation to the consumption and utilization of nutrients.
The measurement of the amplitude of the components of a complex waveform throughout the frequency range of the waveform. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins.
The series of cells in the red blood cell lineage at various stages of differentiation.
Mercury-containing benzoic acid derivatives.
Relatively complete absence of oxygen in one or more tissues.
Large marine mammals of the order CETACEA. In the past, they were commercially valued for whale oil, for their flesh as human food and in ANIMAL FEED and FERTILIZERS, and for baleen. Today, there is a moratorium on most commercial whaling, as all species are either listed as endangered or threatened.
The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)
Individuals whose ancestral origins are in the continent of Africa.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
A hemoglobin-like oxygen-binding hemeprotein present in the nitrogen-fixing root nodules of leguminous plants. The red pigment has a molecular weight approximately 1/4 that of hemoglobin and has been suggested to act as an oxido-reduction catalyst in symbiotic nitrogen fixation.
Membrane glycoproteins found in high concentrations on iron-utilizing cells. They specifically bind iron-bearing transferrin, are endocytosed with its ligand and then returned to the cell surface where transferrin without its iron is released.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
Substances which lower blood glucose levels.
A major integral transmembrane protein of the ERYTHROCYTE MEMBRANE. It is the anion exchanger responsible for electroneutral transporting in CHLORIDE IONS in exchange of BICARBONATE IONS allowing CO2 uptake and transport from tissues to lungs by the red blood cells. Genetic mutations that result in a loss of the protein function have been associated with type 4 HEREDITARY SPHEROCYTOSIS.
A basic science concerned with the composition, structure, and properties of matter; and the reactions that occur between substances and the associated energy exchange.
The composition, conformation, and properties of atoms and molecules, and their reaction and interaction processes.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.
An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states.
Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).
The deductive study of shape, quantity, and dependence. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
A major protein in the BLOOD. It is important in maintaining the colloidal osmotic pressure and transporting large organic molecules.
Puncture of a vein to draw blood for therapeutic purposes. Bloodletting therapy has been used in Talmudic and Indian medicine since the medieval time, and was still practiced widely in the 18th and 19th centuries. Its modern counterpart is PHLEBOTOMY.
Adherence of cells to surfaces or to other cells.
Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
Enlargement of the spleen.
Colloids with a solid continuous phase and liquid as the dispersed phase; gels may be unstable when, due to temperature or other cause, the solid phase liquefies; the resulting colloid is called a sol.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Pathological processes of the KIDNEY or its component tissues.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Bifunctional cross-linking agent that links covalently free amino groups of proteins or polypeptides, including those in cell membranes. It is used as reagent or fixative in immunohistochemistry and is a proposed antisickling agent.
Scattered islands in the Mediterranean Sea. The chief islands are the Balearic Islands (belong to Spain; Majorca and Minorca are among these), Corsica (belongs to France), Crete (belongs to Greece), CYPRUS (a republic), the Cyclades, Dodecanese and Ionian Islands (belong to Greece), MALTA (a republic), Sardinia and SICILY (belong to Italy). (From Webster's New Geographical Dictionary, 1988, p747)
Stable chromium atoms that have the same atomic number as the element chromium, but differ in atomic weight. Cr-50, 53, and 54 are stable chromium isotopes.
The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.
The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)

Aggregation of deoxyhemoglobin S at low concentrations. (1/558)

The self-association of deoxyhemoglobin S was measured in dilute solutions (0 to 5 g/dl) by Rayleigh light scattering at 630 nm and osmometry in 0.05 M potassium phosphate buffer (pH 7.35). Weight and number average molecular weights (Mw and Mn, respectively) and the second or higher virial coefficients, B' were determined. No experimentally significant differences were observed between oxy- and deoxy-Hb S up to the concentration of 2 g/dl; their apparent average molecular weights were within experimental error. Above that concentration, both Mn and Mw of deoxy-Hb S were significantly different from that of oxy-Hb S. The negative second viral coefficent of deoxy-Hb S, observed by both techniques, is consistent with the self-association of this protein. The lack of effect of 0.4 M propylurea on the state of aggregation and the significant influence of 0.1 M NaCl suggests that polar interactions are involved in formation of these aggregates.  (+info)

Polymer structure and solubility of deoxyhemoglobin S in the presence of high concentrations of volume-excluding 70-kDa dextran. Effects of non-s hemoglobins and inhibitors. (2/558)

Earlier observations indicated that volume exclusion by admixed non-hemoglobin macromolecules lowered the polymer solubility ("Csat") of deoxyhemoglobin (Hb) S, presumably by increasing its activity. In view of the potential usefulness of these observations for in vitro studies of sickling-related polymerization, we examined the ultrastructure, solubility behavior, and phase distributions of deoxygenated mixtures of Hb S with 70-kDa dextran, a relatively inert, low ionic strength space-filling macromolecule. Increasing admixture of dextran progressively lowered the Csat of deoxyHb S. With 12 g/dl dextran, a 5-fold decrease in apparent Csat ("dextran-Csat") was obtained together with acceptable sensitivity and proportionality with the standard Csat when assessing the effects of non-S Hb admixtures (A, C, and F) or polymerization inhibitors (alkylureas or phenylalanine). The volume fraction of dextran excluding Hb was 70-75% of total deoxyHb-dextran (12 g/dl) volumes. Electron microscopy showed polymer fibers and fiber-to-crystal transitions indistinguishable from those formed without dextran. Thus when Hb quantities are limited, as with genetically engineered recombinant Hbs or transgenic sickle mice, the dextran-Csat provides convenient and reliable screening of effects of Hb S modifications on polymerization under near-physiological conditions, avoiding problems of high ionic strength.  (+info)

In vivo blood flow abnormalities in the transgenic knockout sickle cell mouse. (3/558)

The accepted importance of circulatory impairment to sickle cell anemia remains to be verified by in vivo experimentation. Intravital microscopy studies of blood flow in patients are limited to circulations that can be viewed noninvasively and are restricted from deliberate perturbations of the circulation. Further knowledge of sickle blood flow abnormalities has awaited an animal model of human sickle cell disease. We compared blood flow in the mucosal-intestinal microvessels of normal mice with that in transgenic knockout sickle cell mice that have erythrocytes containing only human hemoglobin S and that exhibit a degree of hemolytic anemia and pathological complications similar to the human disease. In sickle cell mice, in addition to seeing blood flow abnormalities such as sludging in all microvessels, we detected decreased blood flow velocity in venules of all diameters. Flow responses to hyperoxia in both normal and sickle cell mice were dramatic, but opposite: Hyperoxia promptly slowed or halted flow in normal mice but markedly enhanced flow in sickle cell mice. Intravital microscopic studies of this murine model provide important insights into sickle cell blood flow abnormalities and suggest that this model can be used to evaluate the causes of abnormal flow and new approaches to therapy of sickle cell disease.  (+info)

Sickle hemoglobin polymer melting in high concentration phosphate buffer. (4/558)

Sickle cell hemoglobin (HbS) prepared in argon-saturated 1.8 M phosphate buffer was rapidly mixed with carbon monoxide (CO)-saturated buffer. The binding of CO to the sickle hemoglobin and the simultaneous melting of the hemoglobin polymers were monitored by transmission spectroscopy (optical absorption and turbidity). Changes in the absorption profile were interpreted as resulting from CO binding to deoxy-HbS while reduced scattering (turbidity) was attributed to melting (depolymerization) of the HbS polymer phase. Analysis of the data provides insight into the mechanism and kinetics of sickle hemoglobin polymer melting. Conversion of normal deoxygenated, adult hemoglobin (HbA) in high concentration phosphate buffer to the HbA-CO adduct was characterized by an average rate of 83 s-1. Under the same conditions, conversion of deoxy-HbS in the polymer phase to the HbS-CO adduct in the solution phase is characterized by an average rate of 5.8 s-1 via an intermediate species that grows in with a 36 s-1 rate. Spectral analysis of the intermediate species suggests that a significant amount of CO may bind to the polymer phase before the polymer melts.  (+info)

Solution-active structural alterations in liganded hemoglobins C (beta6 Glu --> Lys) and S (beta6 Glu --> Val). (5/558)

Based upon existing crystallographic evidence, HbS, HbC, and HbA have essentially the same molecular structure. However, important areas of the molecule are not well defined crystallographically (e.g. the N-terminal nonhelical portion of the alpha and beta chains), and conformational constraints differ in solution and in the crystalline state. Over the years, our laboratory and others have provided evidence of conformational changes in HbS and, more recently, in HbC. We now present data based upon allosteric perturbation monitored by front-face fluorescence, ultraviolet resonance Raman spectroscopy, circular dichroism, and oxygen equilibrium studies that confirm and significantly expand previous findings suggesting solution-active structural differences in liganded forms of HbS and HbC distal to the site of mutation and involving the 2,3-diphosphoglycerate binding pocket. The liganded forms of these hemoglobins are of significant interest because HbC crystallizes in the erythrocyte in the oxy form, and oxy HbS exhibits increased mechanical precipitability and a high propensity to oxidize. Specific findings are as follows: 1) differences in the intrinsic fluorescence indicate that the Trp microenvironments are more hydrophobic for HbS > HbC > HbA, 2) ultraviolet resonance Raman spectroscopy detects alterations in Tyr hydrogen bonding, in Trp hydrophobicity at the alpha1beta2 interface (beta37), and in the A-helix (alpha14/beta15) of both chains, 3) displacement by inositol hexaphosphate of the Hb-bound 8-hydroxy-1,3,6-pyrenetrisulfonate (the fluorescent 2,3-diphosphoglycerate analog) follows the order HbA > HbS > HbC, and 4) oxygen equilibria measurements indicate a differential allosteric effect by inositol hexaphosphate for HbC approximately HbS > HbA.  (+info)

Repairing the sickle cell mutation. I. Specific covalent binding of a photoreactive third strand to the mutated base pair. (6/558)

A DNA third strand with a 3'-psoralen substituent was designed to form a triplex with the sequence downstream of the T.A mutant base pair of the human sickle cell beta-globin gene. Triplex-mediated psoralen modification of the mutant T residue was sought as an approach to gene repair. The 24-nucleotide purine-rich target sequence switches from one strand to the other and has four pyrimidine interruptions. Therefore, a third strand sequence favorable to two triplex motifs was used, one parallel and the other antiparallel to it. To cope with the pyrimidine interruptions, which weaken third strand binding, 5-methylcytosine and 5-propynyluracil were used in the third strand. Further, a six residue "hook" complementary to an overhang of a linear duplex target was added to the 5'-end of the third strand via a T(4) linker. In binding to the overhang by Watson-Crick pairing, the hook facilitates triplex formation. This third strand also binds specifically to the target within a supercoiled plasmid. The psoralen moiety at the 3'-end of the third strand forms photoadducts to the targeted T with high efficiency. Such monoadducts are known to preferentially trigger reversion of the mutation by DNA repair enzymes.  (+info)

The reaction of deoxy-sickle cell hemoglobin with hydroxyurea. (7/558)

In addition to its capacity to increase fetal hemoglobin levels, other mechanisms are implicated in hydroxyurea's ability to provide beneficial effects to patients with sickle cell disease. We hypothesize that the reaction of hemoglobin with hydroxyurea may play a role. It is shown that hydroxyurea reacts with deoxy-sickle cell hemoglobin (Hb) to form methemoglobin (metHb) and nitrosyl hemoglobin (HbNO). The products of the reaction as well as the kinetics are followed by absorption spectroscopy and electron paramagnetic resonance (EPR) spectroscopy. Analysis of the kinetics shows that the reaction can be approximated by a pseudo-first order rate constant of 3.7x10(-4) (1/(s.M)) for the disappearance of deoxy-sickle cell hemoglobin. Further analysis shows that HbNO is formed at an observed average rate of 5.25x10(-5) (1/s), three to four times slower than the rate of formation of metHb. EPR spectroscopy is used to show that the formation of HbNO involves the specific transfer of NO from the NHOH group of hydroxyurea. The potential importance of this reaction is discussed in the context of metHb and HbNO being able to increase the delay time for sickle cell hemoglobin polymerization and HbNO's vasodilating capabilities through conversion to S-nitrosohemoglobin.  (+info)

Effects of S-nitrosation on oxygen binding by normal and sickle cell hemoglobin. (8/558)

S-Nitrosated hemoglobin (SNO-Hb) is of interest because of the allosteric control of NO delivery from SNO-Hb made possible by the conformational differences between the R- and T-states of Hb. To better understand SNO-Hb, the oxygen binding properties of S-nitrosated forms of normal and sickle cell Hb were investigated. Spectral assays and electrospray ionization mass spectrometry were used to quantify the degree of S-nitrosation. Hb A(0) and unpolymerized Hb S exhibit similar shifts toward their R-state conformations in response to S-nitrosation, with increased oxygen affinity and decreased cooperativity. Responses to 2, 3-diphosphoglycerate were unaltered, indicating regional changes in the deoxy structure of SNO-Hb that accommodate NO adduction. A cycle of deoxygenation/reoxygenation does not cause loss of NO or appreciable heme oxidation. There is, however, appreciable loss of NO and heme oxidation when oxygen-binding experiments are carried out in the presence of glutathione. These results indicate that the in vivo stability of SNO-Hb and its associated vasoactivity depend on the abundance of thiols and other factors that influence transnitrosation reactions. The increased oxygen affinity and R-state character that result from S-nitrosation of Hb S would be expected to decrease its polymerization and thereby lessen the associated symptoms of sickle cell disease.  (+info)

We describe how twist could play an essential role in stabilizing 20 nm diameter sickle hemoglobin fibers. Our theory successfully reproduces the observed variation of helical pitch length with fiber diameter. With no remaining adjustable parameters it also yields a prediction for the torsional rigidity of sickle hemoglobin fibers that is in good agreement with experiment and hence retains the striking feature that such fibers can be highly mechanically anisotropic, even with a ratio of bending to torsional rigidity of about 50. We discuss how our study might be relevant to the development of treatment strategies.. ...
Read this chapter of Sickle Cell Disease online now, exclusively on AccessHemOnc. AccessHemOnc is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine.
Sickle cell disease (SCD) is a genetic disorder caused by inheritance of two alleles bearing a single nucleotide change in the β globin gene coding sequence. The pathophysiologic mechanism of SCD involves polymerization of intracellular hemoglobin S (HbS) following deoxygenation in the microvasculature, leading to decreased red blood cell (RBC) deformability, morphologic sickling of RBCs, decreased RBC survival, microvascular obstruction, and clinical complications (Bunn H, N Engl J Med, 1997). Voxelotor, a hemoglobin S polymerization inhibitor recently approved for the treatment of SCD, is an allosteric modifier of Hb that increases the proportion of oxygenated Hb in all RBCs. In clinical studies in subjects with SCD, voxelotor has demonstrated that doses of up to 1500 mg daily achieved Hb modifications of ~27%, was well tolerated, and resulted in reduced hemolytic anemia (Howard J et al., Blood, 2019; Vichinsky E et al., N Engl J Med, 2019).. GBT021601 is a potent second generation HbS ...
Sickle cell hemoglobin definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!
It has been known for many years that hemoglobin can aggregate into crosslinked gels within the red blood cells of carriers of the defective sickle hemoglobin gene. However it is only relatively recently that we have started to understand the properties of the individual fibers that make up this gel. These fibers exhibit a variety of striking properties. They have preferred diameters that are larger than the size of the single monomer, and may therefore not be set by this length scale alone. Parallel fibers zipper together into bundles due to interactions that we have been able to quantify rather precisely. The fiber growth rate constants can be sufficient to distort the shape of the red cell membrane and the fiber. Finally the fiber has a novel depolymerisation mechanism that involves two rate constants giving rise to a time scale for complete depolymerisation that is insensitive to the initial fiber length.. ...
The main difference between normal hemoglobin and sickle cell hemoglobin is that normal hemoglobin contains glutamate at position 6 on the surface of the..
The FDA granted breakthrough therapy designation to voxelotor for the treatment of patients with sickle cell disease, according to a press release from the therapy’s manufacturer. Voxelotor (GBT440, Global Blood Therapeutics) — a novel hemoglobin S polymerization inhibitor administered orally once daily — previously received fast track, orphan drug and rare pediatric disease
In this episode of JCIs Authors Take, Donald Kohn of UCLA describes his groups efforts to develop a method to safely and effectively modify patient bone marrow to treat sickle cell disease. Sickle cell disease (SCD) is an autosomal recessive disorder caused by mutations in hemoglobin (HBB) that leads to rigid, deformed red blood cells, as seen in the accompanying image. A small number of patients have been successfully treated with allogeneic hematopoietic stem cell (HSC) transplantation; however, there are several drawbacks and complications associated with this procedure. Many complications could potentially be avoided by performing an autologous HSC transplant in combination with gene therapy to over-ride the defective hemoglobin gene. Zulema Romero, Donald Kohn, and colleagues investigated the utility of a lentiviral vector encoding a human b-globin gene engineered to impede sickle hemoglobin polymerization. The vector efficiently transduced bone marrow cells from SCD patients and ...
Madam,. Adult haemoglobin (Hb) comprises of 2 alpha and 2 beta-globin chains, each having a haem molecule attached. In healthy individuals, around 95-98% HbA (?2?2) and 2-3.5% of Hb A2 (?2?2) are present. The genetic defect of globin chain in which valine is replaced for glutamic acid at position 6 of ? globin chain results in sickle haemoglobin (HbS). Homozygous genetic defect (?S?S) results in a symptomatic disease called sickle cell anaemia whereas, heterozygous (??S) state is asymptomatic and commonly called as sickle cell trait [1]. On deoxygenation and dehydration, HbS undergoes irreversible polymerization causing deleterious effects in vivo [2]. Around 3.2 million people have sickle-cell disease worldwide, with about 80% cases in Africa. About 0.5 to 1 per cent of the Pakistani population carries HbS3. Currently, high-performance liquid chromatography (HPLC) is the preferred method in which HbS elutes at retention time ranging in between 4.1 to 4.7 minutes. Several other variant ...
TY - CHAP. T1 - Fetal hemoglobin for what ails sickle hemoglobin. AU - Ofori-Acquah, Solomon F.. AU - Pace, Betty Sue. PY - 2007/1/1. Y1 - 2007/1/1. UR - http://www.scopus.com/inward/record.url?scp=84967692752&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84967692752&partnerID=8YFLogxK. U2 - 10.1142/9781860947964_0011. DO - 10.1142/9781860947964_0011. M3 - Chapter. AN - SCOPUS:84967692752. SN - 9781860947964. SN - 1860946453. SN - 9781860946455. SP - 173. EP - 192. BT - Renaissance of Sickle Cell Disease Research in the Genome Era. PB - Imperial College Press. ER - ...
What is the gene for an individual who has inherited one gene for a sickle haemoglobin from one parent and a gene for a normal haemoglobin from another parent? ...
Eastman AQ 65S polymer is a polyester supplied as pellets. Aqueous dispersions of Eastman AQ 65S polymer provide excellent water resistance, alcohol resistance, fast drying rates, low odor, and a consistently low coefficient of friction.
TY - JOUR. T1 - The absence of volume change in the gelation of hemoglobin-S. AU - Kahn, P. C.. AU - Briehl, R. W.. PY - 1982/12/1. Y1 - 1982/12/1. N2 - The volume change for the gelation of deoxygenated sickle cell hemoglobin has been measured by dilatometry at 20.0°C and found to be zero. The precision of the result is 0 ± 1.4 ml/mol of protein present in the sample. When the solubility of the protein is taken into account, the precision is 0 ± 5.1 ml/mol of gelled hemoglobin. The participation of hydrophobic interactions in sickle cell hemoglobin gelation and model compound studies of the volume change associated with transferring hydrophobic solutes from an aqueous to a hydrophobic milieu, as well as the volume changes of other globular protein polymerizations, led us, initially, to expect a large positive ΔV. The results are discussed in the context of concentration effects in sickle cell hemoglobin solutions and of recent work on the pressure-induced denaturation of globular ...
Large CO2 clusters were formed by introducing room temperature gaseous mixtures of CO2 in argon into a cryogenic cell at 77 K. Rapid cooling of each mixture resulted in a highly supersaturated CO2 concentration, giving rise to homogeneous nucleation and thus cluster formation [F. F Abraham, Homogeneous Nucleation Theory, Advances in Theoretical Chemistry, Supplement 1 (Academic, New York, 1974), and references therein]. Experimental results will be presented here for CO2 in argon dilutions of 1:104, 1:2Ã-105, and 1:106. Light scattering and infrared absorption techniques have been combined to estimate an average cluster radius of 0.20 μm for the 1:104 dilution sample, and an upper limit in cluster radius of 0.10 μm for the 1:2Ã-105 dilution sample. Therefore, the higher dilution CO2:Ar mixtures led to the formation of smaller cluster sizes. Infrared structure in the ν3-asymmetric stretching region of the clusters will be discussed. The quantum mechanical exciton model and the ...
In spite of the second law of thermodynamics, crystallization of pure liquids usually begins at a lower temperature than the melting point, due to high activation energy of homogeneous nucleation. The creation of a nucleus implies the formation of an interface at the boundaries of the new phase. Some energy is expended to form this interface, based on the surface energy of each phase. If a hypothetical nucleus is too small, the energy that would be released by forming its volume is not enough to create its surface, and nucleation does not proceed. Freezing does not start until the temperature is low enough to provide enough energy to form stable nuclei. In presence of irregularities on the surface of the containing vessel, solid or gaseous impurities, pre-formed solid crystals, or other nucleators, heterogeneous nucleation may occur, where some energy is released by the partial destruction of the previous interface, raising the supercooling point to be near or equal to the melting point. The ...
In spite of the second law of thermodynamics, crystallization of pure liquids usually begins at a lower temperature than the melting point, due to high activation energy of homogeneous nucleation. The creation of a nucleus implies the formation of an interface at the boundaries of the new phase. Some energy is expended to form this interface, based on the surface energy of each phase. If a hypothetical nucleus is too small, the energy that would be released by forming its volume is not enough to create its surface, and nucleation does not proceed. Freezing does not start until the temperature is low enough to provide enough energy to form stable nuclei. In presence of irregularities on the surface of the containing vessel, solid or gaseous impurities, pre-formed solid crystals, or other nucleators, heterogeneous nucleation may occur, where some energy is released by the partial destruction of the previous interface, raising the supercooling point to be near or equal to the melting point. The ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
C. Wells and S.J. Singer) turned his interest to figuring out the particular distinction between ordinary and sickle cell hemoglobin molecules. Breaking the protein molecules down into shorter fragments referred to as peptides, Pauling and co-personnel subjected these fragments to a different separatory procedure known as paper chromatography. When this procedure is placed on samples of usual and mutant (sickle) hemoglobin molecules (alpha and beta chains) that had been damaged down into specific peptides, all the spots are the same -- except for just one very important location (proven darkened in the ultimate chromatogram below), which represents the difference between sickle cell and normal hemoglobin ...
Fingerprint Dive into the research topics of Exponential progress curves and shear in the gelation of hemoglobin S.. Together they form a unique fingerprint. ...
SEPIPLUS™ S is a concentrated thickening-stabilizing-texturizing liquid polymer which imparts rich textures for long-lasting comfort.
The hemoglobin A (HbA) ranges are derived through the normal purple-cell transfusions gained from the client prior to gene therapy and briefly thereafter (the last crimson-mobile transfusion occurred on day 88). HbA2 is an alternate adult hemoglobin that isnt derived from transfused blood. HbF denotes fetal hemoglobin, and HbS sickle hemoglobin. shows the trajectory of vector duplicate quantities and Determine 1B shows production of HbAT87Q. Gene marking increased progressively in total blood, CD15 cells, B cells, and monocytes (Fig. S2 in the Supplementary Appendix), stabilizing 3 months following transplantation. Boosts in amounts of vector-bearing T cells have been additional gradual ...
You may also change from a single to the other of various typical modes of symbolizing molecular structure: the space filling, ball and stick, wire, and ribbon types, by Keeping down the mouse button and choosing-Display. As you will find out later, each provides a unique kind of information about the molecules In general condition and a few of its unique structural attributes. In sickle cell hemoglobin the two alpha chains are typical; the outcome of your mutation resides only from the # 6 place in the two beta chains (the mutant beta chains are known as S chains, as defined within the Terminology Box underneath ...
Dear Colleagues, I am seeking pdb files to use as paired examples of the effects of a single amino acid substitution on protein structure/function. Ideally I would like to have some examples of substitutions that alter function, and some that have little or no evident functional effect. If both types of substitutions are available for the same protein, so much the better. A good example is normal and sickle cell hemoglobin, but I would like to have somewhere between four and ten different protein examples. I need some that affect binding or enzymatic activity and are located in the binding or active site. Thanks in advance for suggestions on this topic. Frieda Frieda Reichsman, PhD Molecules in Motion Interactive Molecular Structures www.moleculesinmotion.com MyDNA Project www.bio.umass.edu/biochem/mydna ...
The extremely low sticking probability of Fe suggests that homogeneous nucleation of metallic Fe grains is highly inefficient. A similarly small sticking probability (α = ~10−5) has been reported for the formation of metallic zinc grains in a microgravity nucleation experiment (21). We have also measured a small sticking probability (α = 3.4 × 10−5 ± 1.2 × 10−4) for metallic nickel grains in a microgravity experiment performed in an aircraft. In contrast, the sticking probability for the formation of grains including Fe in ground-based laboratory experiments is significantly larger (α = ~10−2 to 1) (16, 22). How then does gravity affect the sticking probability? One possibility is localized enhancement of gas density as a result of thermal convection; a higher density leads to a higher collision frequency of atoms, which might cause overestimation of the sticking probability. Another possibility is a heterogeneous effect; for example, small amounts of residual oxygen and water gas ...
Rabbit polyclonal Proteasome 20S beta 3 antibody. Validated in WB, IHC and tested in Mouse, Human. Immunogen corresponding to recombinant full length protein.
Sickle cell haemoglobin. Computer graphic of two molecules of sickle cell haemoglobin showing the mutation (red) that causes sickle cell anaemia. Haemoblogin is the oxygen-carrying pigment that gives red blood cells their colour. The molecule consists of four globin polypeptides (alpha globin = blue, beta globin = yellow), each with a haem component (white) carrying a central iron atom, which binds to oxygen. In sickle cell anaemia a single mutation results in the replacement of the amino acid glutamic acid by valine (red) at residue 6 on the beta chain. As a result the red blood cells and causing anaemia. - Stock Image M108/0329
Sickle cell disease is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. Approximately 0.15% of African-Americans are homozygous for sickle cell disease, and 8% have sickle cell trait. Hemoglobin S polymerization leads to red cell rigidity, microvascular obstruction, inflammation, and end-organ ischemic injury. Our published data indicate that up to 50% of sickle cell patients have vascular dysfunction due to impaired bioavailability of endogenous nitric oxide, due in large part to scavenging of nitric oxide by cell-free hemoglobin. In previous studies we have demonstrated that steady-state serum LDH is strongly associated with 1) other markers of intravascular hemolysis including plasma cell-free hemoglobin and arginase levels, 2) levels of soluble endothelial adhesion molecules, and 3) an impaired vasodilatory response to an NO donor. Further, significant steady-state LDH elevation identified a subset of patients in our cohort as well as the CSSCD ...
Sickle cell disease is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. Approximately 0.15% of African-Americans are homozygous for sickle cell disease, and 8% have sickle cell trait. Hemoglobin S polymerization leads to red cell rigidity, microvascular obstruction, inflammation, and end-organ ischemic injury. Our published data indicate that up to 50% of sickle cell patients have vascular dysfunction due to impaired bioavailability of endogenous nitric oxide, due in large part to scavenging of nitric oxide by cell-free hemoglobin. In previous studies we have demonstrated that steady-state serum LDH is strongly associated with 1) other markers of intravascular hemolysis including plasma cell-free hemoglobin and arginase levels, 2) levels of soluble endothelial adhesion molecules, and 3) an impaired vasodilatory response to an NO donor. Further, significant steady-state LDH elevation identified a subset of patients in our cohort as well as the CSSCD ...
Over 120,000 of people worldwide fall victim to the disorder every year and over 60,000 people are diagnosed with it die annually (BMTN 1998). 2 This paper reviews Sickle cell anaemia.Sickle cell anaemia is a homozygous form of HbS(HbSS).This result from single point replacement of glutamine by valine at position 6 of β-globin chain.This. In order to have the disease the abnormal hemoglobin S gene must be inherited by both of a persons parents The Cause Of Sickle Cell Anemia Biology Essay. Read a properly written Medicine sample about Sickle Cell Anemia here. In order to have the disease the abnormal hemoglobin S gene must be inherited by both of a persons parents Sickle Cell Anemia: Types, Symptoms, and Treatment Sickle cell anemia, or sickle cell disease, is a genetic disease and red blood cells that are normally shaped like a disc have instead a crescent shape. Bond Sickle Cell Anemia 3 Introduction Sickle cell disease (SCD) is an inherited blood disorder characterized by chronic anemia ...
Individuals carrying just one copy of the sickle mutation (inherited from either the father or mother) were known not to develop sickle cell anemia, leading rather normal lives. However, it was found that these same individuals, said to carry the sickle cell trait, were in fact highly protected against malaria, thus explaining the high prevalence of this mutation in geographical areas where malaria is endemic.. These findings lead to the widespread believe in the medical community that understanding the mechanism whereby sickle cell trait protects against malaria would provide critical insight into developing treatment or a possible cure for this devastating disease, responsible for over a million premature deaths in sub-Saharan Africa. Despite several decades of research, the mechanism underlying this protective effect remained elusive. Until now.. Several studies suggested that, in one way or another, sickle hemoglobin might get in the way of the Plasmodium parasite infecting red blood cells, ...
Iwu, M.M., A.O. Igboke, H. Unwubiko and U.E. Ndu (1988) Effect of calaminose from Cajanus cajan on gelation and oxygen affinity of sickle cell haemoglobin. [Publication] Full text not available from this repository ...
Sickle hemoglobin tutorial by Eric Martz on the College of Massachusetts The chart beneath summarizes many of the terminology Weve got encountered in discussing the different sorts of hemoglobins and their medical manifestations. Study this chart and discover the particular meanings of these conditions. Theyll help you retain crystal clear just what element of sickle mobile anemia, or what component on the genetic or molecular program is currently being discussed. HbA: Ordinary hemoglobin (refers back to the entire molecule) HbS: Sickle cell hemoglobin (homozygous mutant) Hba: Gene for normal hemoglobin alpha chain Hbb: Gene for typical hemoglobin beta chain Hbs: Gene for mutant hemoglobin beta chain, the sickle cell hemoglobin Structure of Standard Hemoglobin Molecule (HbA): two alpha and 2 beta chains Construction of Sickle Cell Disease Molecule: 2 alpha and a pair of s chains Composition of Hemoglobin in Individuals with Sickle Cell Ailment All hemoglobin molecules encompass two alpha and a ...
Zn²⁺ is an essential nutrient for all known forms of life. In the major human pathogen Streptococcus pneumoniae, the acquisition of Zn²⁺ is facilitated by two Zn²⁺-specific solute-binding proteins: AdcA and AdcAII. To date, there has been a paucity of structural information on AdcA, which has hindered a deeper understanding of the mechanism underlying pneumococcal Zn²⁺ acquisition. Native AdcA consists of two domains: an N-terminal ZnuA domain and a C-terminal ZinT domain. In this study, the ZnuA domain of AdcA was crystallized. The initial crystals of the ZnuA-domain protein were obtained using dried seaweed as a heterogeneous nucleating agent. No crystals were obtained in the absence of the heterogeneous nucleating agent. These initial crystals were subsequently used as seeds to produce diffraction-quality crystals. The crystals diffracted to 2.03 Å resolution and had the symmetry of space group P1. This study demonstrates the utility of heterogeneous nucleation. The solution of ...
The global sickle cell anemia testing and screening market size is expected to reach USD 340.71 million by 2027, expanding at a CAGR of 5.44% from 2020 to 2027, according to a new report by Grand View Research, Inc. Hemoglobin S (HbS) is the causative factor for sickle cell disease and is currently the most prevailing disease or genetic abnormality across the globe, specifically across developing economies.. Sickle cell hemoglobin variants are inclusive of HbS, HbA, and HbC. Different tests have been developed to perform a clear distinction between all the three above-mentioned hemoglobin variants. Development of a deep learning framework designed to perform automated screening of sickle cell anemia in blood smear sample of patients via a smartphone microscope is set to open up new avenues for the market in the near future.. The market is moderately consolidated, wherein the key industry participants are striving to sustain market competition via partnerships, acquisitions, and expanding their ...
Red cells that contain primarily HbS or HbS with one of the variants that interacts with it, such as HbC, are abnormal in many respects, including that as a result of hemolysis they are overall much younger than normal erythrocytes.1 The fundamental defect in sickle red blood cells (SS RBCs) is the insolubility of HbS when it becomes deoxygenated, leading to formation of polymers that aggregate into tubular fibers and, as they enlarge, deform red cells, causing the characteristic sickle shape. In addition, SS RBCs become dehydrated, have abnormally activated intracellular signaling pathways, have decreased nitric oxide2 and adenosine triphosphate3 content and antioxidant capacity, demonstrate oxidative damage to many cellular components,4 and reflect dysregulation of miRNAs and gene expression during erythropoiesis.5,6 Cellular dehydration contributes to deoxygenated hemoglobin polymer formation and ultimately cell sickling and hemolysis. Signaling pathways downstream of the β2 adrenergic ...
Laboratory of Blood Substitutes and Oxygen Carriers and Laboratory of Pathological Physiology, Central Research Institute of Hematology and Blood Transfusion, Ministry of Health of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR O. K. Gavrilov.) Translated from Byulleten Éksperimentalnoi Biologii i Meditsiny, Vol. 102, No. 10, pp. 421-423, October, 1986. ...
What is sickle cell disease? Sickle cell anemia (SCA) describes a group of inherited red blood cell disorders. People with sickle cell disease have abnormal hemoglobin, hemoglobin S or sickle hemoglobin, the protein in red blood cells that carries oxygen. Sickle cell disease is a lifelong condition and its severity varies from child to child.
To diagnose sickle cell anemia, doctors use a special blood test called a hemoglobin electrophoresis (pronounced: eh-lek-tro-fuh-ree-sis) to look for sickle hemoglobin in a persons blood.. It is possible for some people to be ill enough to die from the disease (although most young people with sickle cell anemia dont die). Doctors can provide treatments that help prevent complications from the disease, though. Folic acid, a vitamin that helps the body produce new red blood cells, is often prescribed for teens with sickle cell anemia. Pain medications help relieve the symptoms of crises. And kids and teens who have sickle cell disease should take penicillin or other antibiotics to help prevent infections. Drinking lots of fluids and avoiding extreme cold or heat can help prevent crises.. Some crises can be managed at home with pain medicines, rest, and extra fluids. But if a crisis is especially intense, a teen may need to go to the hospital for intravenous (IV) fluids and stronger pain ...
The National Heart, Lung, and Blood Institute (NHLBI) announced today a treatment that reduces the rate of stroke (cerebral infarction) in children with sickle cell anemia. Strokes occur in approximately 10% of children with sickle cell anemia. These events can be very debilitating, leading to physical and neuro-psychological impairment which can affect motor skills, school performance, and overall quality of life. The treatment, periodic red blood cell transfusions to maintain the level of hemoglobin S (HbS) below 30%, reduced the rate of cerebral infarction by 90% in children found to be at increased risk by virtue of having elevated transcranial doppler velocities.. The Stroke Prevention Trial in Sickle Cell Anemia (STOP) proposed to reduce first-time stroke in children with sickle cell anemia by 70% by the administration of prophylactic transfusion therapy. The study design was based on the clinical observation that if hemoglobin S (HbS) levels are maintained at or below 30% in children who ...
Sickle hemoglobin tutorial by Eric Martz on the University of Massachusetts The chart underneath summarizes several of the terminology We now have encountered in speaking about the various kinds of hemoglobins as well as their scientific manifestations. Study this chart and discover the particular meanings of those phrases. They may help you retain very clear just what exactly facet of sickle mobile anemia, or what part of your genetic or molecular procedure is remaining talked about. HbA: Regular hemoglobin (refers back to the entire molecule) HbS: Sickle mobile hemoglobin (homozygous mutant) Hba: Gene for ordinary hemoglobin alpha chain Hbb: Gene for regular hemoglobin beta chain Hbs: Gene for mutant hemoglobin beta chain, the sickle cell hemoglobin Composition of Usual Hemoglobin Molecule (HbA): two alpha and 2 beta chains Framework of Sickle Mobile Condition Molecule: two alpha and a couple of s chains Composition of Hemoglobin in Persons with Sickle Cell Condition All hemoglobin molecules ...
Background: Sickle cell disease (SCD) is a genetic disorder in which deoxygenation produces polymerization of mutated hemoglobin S (HbS) and triggers the downstream effects of red blood cell deformation (sickling), hemolysis, vaso-occlusion and inflammation. Injury from SCD starts in infancy and accumulates over a lifetime causing significant end-organ damage and ischemic tissue injury, leading to fatigue, pain (vaso-occlusive crisis) and other clinical complications that are under-recognized, under-treated, and associated with early death. GBT440 is an oral, once-daily therapy that modulates hemoglobin affinity for oxygen, thereby inhibiting hemoglobin polymerization. GBT440-007 is a Phase 2a study designed to assess the safety, pharmacokinetics (PK) and efficacy of GBT440 in pediatric SCD patients (HbSS or HbSβ0 thalassemia). This abstract reports the first evaluation of multiple doses of GBT440 in adolescents (12 to 17 years) with SCD. Methods: This ongoing study is being conducted in 2 ...
Ann-Kristin Flieger, M. Schulz, and T. Thurn-Albrecht. Experimental Polymer Physics, Institute of Physics, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany. Interface-induced crystallization of a liquid on a solid substrate can either occur via heterogeneous nucleation or via prefreezing. Whereas heterogeneous nucleation takes place at finite supercooling below the melting temperature Tm, in prefreezing a crystalline layer is formed at the surface of a solid substrate already above Tm. Wetting theory predicts a jump in thickness at the formation and a divergence upon approaching coexistence. However, the thickness of the prefreezing layer has not been experimentally measured so far.. We studied ultrathin films of polycaprolactone (PCL) during the crystallization on graphite. With in-situ AFM-measurements we observe prefreezing instead of heterogeneous nucleation. The corresponding crystalline layer is formed at a temperature above the bulk melting temperature. Similar observations ...
Ann-Kristin Flieger, M. Schulz, and T. Thurn-Albrecht. Experimental Polymer Physics, Institute of Physics, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany. Interface-induced crystallization of a liquid on a solid substrate can either occur via heterogeneous nucleation or via prefreezing. Whereas heterogeneous nucleation takes place at finite supercooling below the melting temperature Tm, in prefreezing a crystalline layer is formed at the surface of a solid substrate already above Tm. Wetting theory predicts a jump in thickness at the formation and a divergence upon approaching coexistence. However, the thickness of the prefreezing layer has not been experimentally measured so far.. We studied ultrathin films of polycaprolactone (PCL) during the crystallization on graphite. With in-situ AFM-measurements we observe prefreezing instead of heterogeneous nucleation. The corresponding crystalline layer is formed at a temperature above the bulk melting temperature. Similar observations ...
What is DROXIA?. DROXIA (hydroxyurea capsules, USP) is a prescription medicine that is used to reduce the frequency of painful crises and reduce the need for blood transfusions in adults with sickle cell anemia. How DROXIA works is not certain but it may work by reducing the number of white blood cells and/or increasing red blood cells that carry fetal hemoglobin (HbF). Fetal hemoglobin may prevent sickling.. What is Sickle Cell Anemia?. Sickle cell anemia is an inherited disorder of the red blood cells. Red blood cells carry oxygen to all parts of the body by using a protein called hemoglobin. Normal red blood cells contain only normal hemoglobin and are shaped like indented disks. These cells are very flexible and move easily through small blood vessels. In sickle cell anemia, the red blood cells contain sickle hemoglobin, which causes them to change to a rigid, spiked shape (sickle shape) after oxygen is released. Sickled cells get stuck and form plugs in small blood vessels. These plugs ...
In S trait, the percentage of hemoglobin S (roughly 35%) is not usually sufficient to cause significant sickling, and the condition is relatively benign. With hemoglobin O-Arab, there is no tendency to sickle, even in the homozygous state. It is the interaction between these two singly-substituted hemoglobins S (ß6 Glu → Val) and O-Arab (ß121 Glu → Lys) that forms insoluble copolymers with a different shape to SS polymers. Characteristically, RBC indices are normal in this condition, which helps differentiate it from SC disease and SS disease. There are very few actual sickle shaped cells, rather the cells have a flattened aspect and are described as folded, similar in shape to the microcytic cells seen in S/C disease.. The distinction between hemoglobin S/O-Arab and the more common hemoglobin S/C disease is often a difficult call from the laboratory viewpoint. In both instances, the variant hemoglobins are present in equal relative percentages once the hemoglobin F is subtracted. ...
This chapter is focused on the effect of natural products in pure form or characterized phytoconstituents on particularly inhibition of hemoglobin polymerization.This summarized information will be benecial for further exploration of new therapeutics in the treatment arena of SCA.Millions of people around the world, especially children, have been affected by SCA. This global burden is a growing concern nowadays as the yearly increase of newborns with SCA is expected from around three to four lakhs between and. SCA, congenital hemolytic anemia, is caused by a single amino acid substitution. This shows the way for polymerization of deoxygenated sickle hemoglobin which is the crucial step in the molecular pathogenesis of SCA.This polymerization alters the RBC rheology by changing its surface property, membrane damage, and dehydration of RBC.Potassium chloride cotransport and calciumactivated potassium efux are generally involved during the process of RBC dehydration. During this process, shape of ...
Hemoglobin Variants: S, C, and E. Individuals who are heterozygous for hemoglobin S (Hb AS or sickle trait) are asymptomatic and have a normal peripheral smear. About 8% of African-Americans carry the sickle trait. In contrast, Hb S homozygotes suffer from sickle cell disease or sickle cell anemia. This condition results from a glutamic acid-to-valine switch in the 6th amino acid of the beta chain (b6 Glu-→Val). Hemoglobins containing the βS polypeptide chain, when in the deoxygenated form, are far less soluble than normal adult Hb A. The insoluble deoxyhemoglobin S polymerizes and makes the RBC very rigid. This sickled RBC is unable to traverse the microcirculation, resulting in obstruction of small blood vessels. S homozygotes typically produce Hb F at relative percentages that range from 0% up to 20% in untreated individuals. Individuals who are AS heterozygotes (sickle trait) show both Hb A and Hb S in the ratio of approximately 60:40, with normal concentrations of Hb A2. Hemoglobins D, ...
Vaso-occlusive crisis-sickle cell pain related crisis-is the primary cause for hospital visits for sickle cell patients. Although the etiology of vaso-occlusion is not well understood, increased expression of P-selectin in endothelial cells and platelets contributes to the pathogenesis. Crizanlizumab, a monoclonal antibody directed toward P-selection, blocks its interaction with other cells and may reduce the risk of sickle cell pain crises. In a phase-2, multi-center, placebo-controlled trial, 198 patients were randomized in a 1:1:1 ratio to receive either high dose crizanlizumab (5.0 mg per kg of body weight), low dose crizanlizumab (2.5 mg per kg) or a placebo drug during the one year study. Patients with sickle cell disease who were taking high doses of crizanlizumab had a median rate of 1.63 pain crises compared to 2.98 among those taking the placebo (45.3% lower rate, P=0.01). Furthermore, the median time to first crisis was longer for patients taking high dose crizanlizumab, and these ...
Gregory Vercellotti, MD, FACP, was inducted into the Academy for Excellence in Health Research for his internationally recognized contributions to the fields of endothelial cell biology, inflammation, and sickle cell disease. Early in his research career, Dr. Vercellotti discovered that heme released from destabilized heme-containing proteins is a common pathway for cell injury irrespective of the original cellular insult. He then identified the cytoprotective pathways that defend cells against heme-mediated oxidative damage. This cytoprotective response is ubiquitous, occurring in diverse tissues and in response to disparate insults. Dr. Vercellotti extended these biological discoveries to sickle cell disease (SCD), which is caused by mutant sickle hemoglobin. He discovered that unstable sickle hemoglobin contributed to sickling pathologies via heme, defining for the first time the proinflammatory vasculopathy in SCD and hemes contribution to this sickle phenotype. This work opened up new targeted
Sickle cell anemia is one of the most common, inherited single gene disorders in African-Americans. About one in 500 African-American babies is born with SC, and about one in 12 African-American people carries the gene for SC. Sickle cell disease involves the red blood cells, or hemoglobin, and their ability to carry oxygen. Normal hemoglobin cells are smooth, round, and flexible, like the letter O, so they can move through the vessels in our bodies easily. Sickle cell hemoglobin cells are stiff and sticky, and form into the shape of a sickle, or the letter C when they lose their oxygen. These sickle cells tend to cluster together and cannot easily move through the blood vessels. The cluster causes a blockage and stops the movement of healthy, normal oxygen carrying blood. This blockage is what causes the painful and damaging complications of sickle cell disease.. Sickle cells only live for about 15 days, whereas normal hemoglobin cells can live up to 120 days. Also, sickle cells risk being ...
Currently, there is no cure for sickle cell disease, the primary treatment is that of blood transfusions, which acts to effectively decrease the concentration of sickle cell hemoglobin in the blood.. ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~. View the Slideshow for the spread of Malaria and Sickle Cell Gene. click here if you are using ...
Thermodynamics of a small sessile droplet on a solid substrate is discussed with a focus on size dependence of its contact angle. An interface displacement (ID)...
Anemia, sickle cell; Hemoglobin S Disease. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
Sickle cell disease (SCD) encapsulates a group of inherited disorders arising from a single amino acid substitution in the β-chain of haemoglobin. This mutation results in the production of sickle haemoglobin (HbS), which polymerises when deoxygenated and leads to red blood cell sickling. The sickling of red blood cells affects multiple systems and organs throughout the body, but can be characterised by three key clinical features: anaemia, haemolysis, and vaso-occlusion, which contribute to the acute and chronic presentation and progression of SCD.1. The incidence of SCD is expected to continue to rise in both high- and low-income countries. There are an estimated 100,000 cases of SCD in the USA; globally, 300,000 infants are born with the disease annually - this figure is expected to increase to 400,000 by 2050.1 Despite improvements in diagnosis and treatment in both infants and adults, SCD is still associated with a shorter life expectancy - by around 30 years in the USA - and a poor ...
A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA) affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS) in 15 minutes using undiluted whole blood. A small volume of blood (0.5 μL- 3 μL) is mixed with antibody-coated blue latex beads in a tube and applied to the strip. Strips are then placed in a well of running buffer and allowed to run for 10 minutes. Laboratory evaluation with samples containing different proportions of hemoglobin A (HbA) and hemoglobin S (HbS) indicated that the test should enable identification of SCA patients but not persons with sickle ...
Sickle cell anemia is caused by a variant type of hemoglobin, the protein in red blood cells that carries oxygen to the tissues of the body, called hemoglobin S (HbS). HbS is sensitive to deficiency of oxygen. When the carrier red blood cells release their oxygen to the tissues and the oxygen concentration within those cells is reduced, HbS, in contrast to normal hemoglobin (HbA), becomes stacked within the red cells in filaments that twist into helical rods. These rods then cluster into parallel bundles that distort and elongate the cells, causing them to become rigid and assume a sickle shape. This phenomenon is to some extent reversible after the cells become oxygenated once more, but repeated sickling ultimately results in irreversible distortion of the red cells. The sickle-shaped cells become clogged in small blood vessels, causing obstruction of the microcirculation, which in turn results in damage to and destruction of various tissues. ...
SOUTH SAN FRANCISCO, Calif., Oct. 07, 2016 (GLOBE NEWSWIRE) - Global Blood Therapeutics, Inc. (GBT) (NASDAQ:GBT), a biopharmaceutical company developing novel therapeutics for the treatment of grievous blood-based disorders with significant unmet needs, today announced that an encore presentation of the GBT440-001 study data supporting the durability, safety and mechanism of action of GBT440 in sickle cell disease were presented today in an oral session at the Academy for Sickle Cell and Thalassemia (ASCAT) 10th Anniversary Conference in London.. Hemoglobin oxygen affinity modulation is a very promising approach for modifying disease in SCD because it intervenes on the fundamental pathologic process- HbS polymerization. GBT440 is an exciting hemoglobin modifier in development because of excellent specificity and pharmaceutical properties resulting in both increased potency and an improved safety profile. Over three months of dosing, GBT440 has shown profound and durable reductions in hemolysis ...
Researchers used the CRISPR-Cas9 gene-editing system to correct the sickle cell mutation in patient blood stem cells. When those cells were given to mice, they engrafted for up to four months.
What is the main genetic abnormality in sickle cell disease? Describe why patients with sickle cell disease are at risk of vascular crises.. Sickle cell disease includes all conditions associated with hemolytic anemia and vaso-occlusive pain. Over 20% of people in equatorial Africa are heterozygous for the sickle gene, as it is believed to offer protection against malaria. The pathophysiology arises from an amino acid switch in the 6th position (11th chromosome) from glutamic acid to valine.. When hemoglobin S encounters a deoxygenated state, the hemoglobin is less soluble and the Hb S tetramers aggregate or polymerize. The sickled RBCs adhere to the vascular surface, causing occlusion and an increased hypercoagulable state.. Not surprisingly, sickle cell disease patients have the potential for many co-morbidities:. ...
BioNews, London] Researchers have had further success using the CRISPR/Cas9 genome-editing technique to repair the mutation that causes sickle-cell anaemia.. The team used CRISPR/Cas9 to replace the faulty gene in stem cells from patients with the disease. The healthy cells were injected into mice and were still working efficiently 16 weeks later.. What weve finally shown is that we can do it, said Dr Matthew Porteus of Stanford University, who led the study. Its not just on the chalkboard. We can take stem cells from a patient and correct the mutation and show that those stem cells turn into red blood cells that no longer make sickle haemoglobin.. Sickle-cell anaemia is an inherited disease in which a mutation in the haemoglobin gene causes red blood cells to become sickle-shaped, rigid and sticky. This causes blockages, reducing blood flow and depriving that part of the body of oxygen, which in turn leads to pain, anaemia and ultimately organ damage.. The research, which was published in ...
If you are a patient or parent of a child with Sickle Cell Disease, you must attend ED without delay if you have a fever ,38° C, neurological symptoms, or severe pain not controlled by your home analgesia. Click here for further information.. For ED healthcare professionals, patients with SCD presenting with an acute pain episode require: RAPID, SUSTAINED and EFFECTIVE multimodal analgesia. For further guidance please click here.. ...
Communications DOI: 10.1002/anie.201103026 Carbohydrate Self-Association Protein-like Oligomerization of Carbohydrates Thomas Heinze, Melanie Nikolajski, Stephan Daus, Tabot M. D. Besong, Nico Michaelis, Peter Berlin, Gordon A. Morris, Arthur J. Rowe, and Stephen E. Harding* Many proteins form noncovalent and thermodynamically reversible oligomers, and the state of self-association can dictate a proteins functionality. DNA-binding proteins are very often dimeric, while other proteins exist as trimers (e.g. chloramphenicol transacetylase), tetramers (e.g. hemoglobin), or higher-order reversible association products (tubulin, viral coat proteins, sickle cell hemoglobin), with clear functional roles that have never been observed for carbohydrates. Although weak self-association in a polysaccharide has been shown,[1] we show for the first time the presence of multiple oligomeric forms in a whole class of polymeric carbohydrates, 6-deoxy-6-aminocelluloses, using the hydrodynamic technique of ...
The Immucor PreciseType TM HEA test is the first FDA-approved molecular assay, designed to provide clinicians and blood banks with the detailed genetic matching information they need to reduce the risk of alloimmunization and serious hemolytic reactions. Watch this video to hear Trey, a sickle cell patient, discussing how blood transfusions help him to cope with his disorder.
Metcalf B, Chuang C, Dufu K, Patel MP, Silva-Garcia A, Johnson C, Lu Q, Partridge JR, Patskovska L, Patskovsky Y, Almo SC, Jacobson MP, Hua L, Xu Q, Gwaltney SL 2nd, Yee C, Harris J, Morgan BP, James J, Xu D, Hutchaleelaha A, Paulvannan K, Oksenberg D, Li Z. Discovery of GBT440, an Orally Bioavailable R-State Stabilizer of Sickle Cell Hemoglobin. ACS Med Chem Lett. 2017 Jan 23;8(3):321-326 ...
Binary homogeneous nucleation (BHN) of sulphuric acid and water (H2SO4/H2O) is one of the most important atmospheric nucleation processes, but laboratory observations of this nucleation process are very limited and there are also large discrepancies between different laboratory studies. The difficulties associated with these experiments include wall loss of H2SO4 and uncertainties in estimation of H2SO4 concentration ([H2SO4]) involved in nucleation. We have developed a new laboratory nucleation setup to study H2SO4/H2O BHN kinetics and provide relatively constrained [H2SO4] needed for nucleation. H2SO4 is produced from the SO2+OH→HSO3 reaction and OH radicals are produced from water vapor UV absorption. The residual [H2SO4] were measured at the end of the nucleation reactor with a chemical ionization mass spectrometer (CIMS). Wall loss factors (WLFs) of H2SO4 were estimated by assuming that wall loss is diffusion limited and these calculated WLFs were in good agreement with simultaneous ...
The interrelation between specific ?-nucleation, thermal history, and molecular weight of isotactic polypropylene (PP) has been investigated by wide-angle X-ray scattering, differential scanning calorimetry, and scanning electron microscopy. Samples with a broad range of molecular weight (Mw), from 240 000 to 1 300 000, allowed to examine the effect of PP molecular structure on the nucleation sensitivity. N,N`-Dicyclohexylnaphthalene-2,6-dicarboxamide (NU 100) was introduced in the concentrations of 0, 0.01, and 0.03 wt % as a ?-specific nucleating agent into neat PP. Specimens were then processed via compression molding at various processing temperatures and times. Samples containing 0.01 wt % of NU 100 showed a dramatic decrease of nucleation activity into ?-phase with increasing Mw, processing time, and temperature. This effect was ascribed to a partial solubility of nucleator in PP melt and a competition between heterogeneous ?-nucleation and self ?-nucleation ...
In this work we have used atomistic computer simulations to examine the structure, thermodynamics and transport properties, for two models of chemically heterogeneous interfaces: an ideal model (repulsive soft spheres against a potential wall), and a metal alloy interface (Cu-Pb). In both systems, interfacial prefreezing (crystal formation above the melting point of the fluid) was observed and this prefreezing was seen to promote heterogeneous nucleation, when the systems were cooled below the melting temperature. In our study of inverse-power repulsive soft spheres, we found that the soft-sphere fluid exhibited prefreezing at the wall surface. Similar behavior was previously observed in hard-sphere fluids at hard wall [17, 18, 20], however, to our knowledge, this the first time that prefreezing is reported for soft spheres. The prediction of prefreezing is based on the calculation of interfacial free energies wall-crystal (g_wc) and wall-fluid (g_wf ) using a variant of the cleaving wall ...
Pulmonary embolism (PE) is a common and important diagnostic consideration in the emergency department (ED) setting. The incidence of PE has been …
Hello Dr. Keller,. Recently at our facility (mid-sized jail), we have been having more difficulty managing some of our Sickle Cell Disease patients. I am looking for input from you and / or your readers regarding strategies for managing Sickle Cell patients.. The problem as I see it is this: Sickling can be brought on by stressful and/or uncomfortable conditions; temperature variations, hydration issues, and physical or emotional stressful conditions - ALL of which occur routinely in a jail environment.. At my facility, I typically allow for more comfort measures when dealing with my Sickle Cell Disease patients. I give an extra mat and extra blanket for comfort and warmth. I give them a small pitcher to fill with water to encourage good hydration. I start off with Tylenol/Motrin for mild everyday pain. We typically avoid opiates in our facility, but allow for opiate medication when it is believed patients are in moderate discomfort. I keep a close eye on things that would suggest infection - ...
Hello Dr. Keller, Recently at our facility (mid-sized jail), we have been having more difficulty managing some of our Sickle Cell Disease patients. I am looking for input from you and / or your readers regarding strategies for managing Sickle Cell patients. The problem as I see it is this: Sickling can be brought on by stressful and/or uncomfortable conditions; temperature variations, hydration issues, and physical or emotional stressful conditions - ALL of which occur routinely in a jail environment. At my facility, I typically allow for more comfort measures when dealing with my Sickle Cell Disease patients. I give an extra mat and extra blanket for comfort and warmth. I give them a small pitcher to fill with water to encourage good hydration. I start off with Tylenol/Motrin for mild everyday pain. We typically avoid opiates in our facility, but allow for opiate medication when it is believed patients are in moderate discomfort. I keep a close eye on things that would suggest infection - heart ...
PubMed journal article: Sickle cell painful crises: a multifactorial event. Download Prime PubMed App to iPhone, iPad, or Android
... of hemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity. Hemoglobin is a protein found ... For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that ... Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid ... "HBB - Hemoglobin, Beta". Genetics Home Reference. National Library of Medicine. "Anemia, Sickle Cell". Genes and Disease. ...
Protein structure Behe, Michael J.; Englander, S. Walter (July 1978). "Sickle hemoglobin gelation. Reaction order and critical ... Kinetics, equilibrium and gel incorporation in sickle hemoglobin mixtures". Journal of Molecular Biology. 133 (1): 137-160. doi ... September 18, 1979). "Quantitative assessment of the noncovalent inhibition of sickle hemoglobin gelation by phenyl derivatives ... He received his PhD in biochemistry at the University of Pennsylvania in 1978 for his dissertation research on sickle-cell ...
"Structural analysis of polymers of sickle cell hemoglobin. I. Sickle hemoglobin fibers". Journal of Molecular Biology. 199 (2 ... She developed software to analyze poorly ordered sickle cell hemoglobin fibers and went on to collaborate with Ron Milligan's ...
Bridges, Kenneth (2 April 2002). "Malaria and the Sickle Hemoglobin Gene". Information Center for Sickle Cell and Thalassemic ... Those afflicted with sickle-cell trait are also known as carriers: If two carriers have a child, there is a 25% chance their ... Sickle-cell anemia (SCA) is a genetic disorder caused by the presence of two incompletely recessive alleles. When a sufferer's ... If effective sickle-cell anemia treatments become available to the same degree, allele frequencies should remain at their ...
HMF bind intracellular sickle hemoglobin (HbS). Preliminary in vivo studies using transgenic sickle mice showed that orally ... "5-hydroxymethyl-2-furfural modifies intracellular sickle haemoglobin and inhibits sickling of red blood cells". British Journal ... Under the development code Aes-103, HMF has been considered for the treatment of sickle cell disease. Today, HPLC with UV- ... administered 5HMF inhibits the formation of sickled cells in the blood. ...
"Sickle Hemoglobin Confers Tolerance to Plasmodium Infection". Cell. 145 (3): 398-409. doi:10.1016/j.cell.2011.03.049. ISSN 0092 ... A research team led by Miguel Soares discovered how sickle cell anemia protects against malaria and published the study in the ...
Hemoglobin A is the "normal" hemoglobin, the variant of hemoglobin that is most common after birth. Hemoglobin A2 is a minor ... "Hemoglobinopathies". sickle.bwh.harvard.edu. Retrieved 2020-11-21. Weber RE, Vinogradov SN (April 2001). "Nonvertebrate ... Hemoglobin A2 makes up less than 3% of total red blood cell hemoglobin. Hemoglobin F typically is only found in the fetal stage ... While Hemoglobin F falls dramatically after birth, it is possible for some people to produce some levels of Hemoglobin F ...
Ashley-Koch, A; Yang, Q; Olney, R.S (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease". American Journal of ... For example, referring to the sickle cell anemia model, the deleted phenotypes do persist if the heterozygote has an advantage ... such as sickle cell anemia, Tay-Sachs disease, and cystic fibrosis, that theorize the infectious agents. Furthermore, one study ...
"141900 Hemoglobin-Beta Locus; HBB: .0243 Hemoglobin S. Sickle Cell Anemia, included. Malaria, Resistance to, included. HBB, ... In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered ... mutation-and the protein is sufficiently altered to cause the sickle-cell disease. Not all missense mutations lead to ... sickle-cell disease, and SOD1 mediated ALS. ...
Edoh D, Antwi-Bosaiko C, Amuzu D (March 2006). "Fetal hemoglobin during infancy and in sickle cell adults". African Health ... This enables fetal hemoglobin to absorb oxygen from adult hemoglobin in the placenta, where the oxygen pressure is lower than ... Fetal hemoglobin enhances the fetus' ability to draw oxygen from the placenta. Its oxygen-hemoglobin dissociation curve is ... Until around six months' old, the human infant's hemoglobin molecule is made up of two alpha and two gamma chains (2α2γ). The ...
January 2008). "Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin". Proc. Natl ... This hypothesis has since been confirmed and extended to hemoglobin E, hemoglobin C and Hemoglobin S. Malaria Atlas Project ... Beet, EA (1946). "Sickle cell disease in the Balovale District of Northern Rhodesia". East African Medical Journal. 23: 75-86. ... 3 October 2007). "Haemoglobin C and S Role in Acquired Immunity against Plasmodium falciparum Malaria". PLOS ONE. 2 (10): e978 ...
Three-dimensional reconstruction of the fibres of sickle cell haemoglobin. Nature (1978), 272: 506-510 Jean-Pierre Changeux, ... The Sickled Cell: From Myths to Molecules. (1986) Harvard University Press. ISBN 978-0674807372 J M Widom, Stuart J Edelstein. ... Using mathematical models and 3D structures, he studied the function of hemoglobin, solving the structure of mutant form ... Extensions of the allosteric model for haemoglobin. Nature (1971), 230: 224-227 Gene Dykes, Richard H Crepeau, Stuart J ...
His dissertation title was "Physical-Chemistry studies of Sickle Cell Hemoglobin." He then worked as a postdoctoral researcher ...
Hemoglobin, and Sickle Cell Anemia; Key Participants: Lee DuBridge - Linus Pauling and the International Peace Movement: A ...
His work in establishing the field of molecular biology; his studies of hemoglobin led to the classification of sickle cell ... Hemoglobin and Sickle Cell Anemia. Retrieved May 30, 2020. Pauling, Linus (1987). How to Live Longer and Feel Better (1 ed.). ... they demonstrated that individuals with sickle cell disease have a modified form of hemoglobin in their red blood cells, and ... Hemoglobin and Sickle Cell Anemia - Special Collections & Archives Research Center - Oregon State University". Oregon State ...
Allison A.C. (1956). "The sickle-cell and Hemoglobin C genes in some African populations". Annals of Human Genetics. 21 (1): 67 ... An individual homozygous for the recessive sickle hemoglobin, HgbS, has a short expectancy of life, whereas the life expectancy ... Sickle-cell anaemia is found mostly in tropical populations in Africa and India. ... This is balancing selection or genetic polymorphism, balanced between fierce selection against homozygous sickle-cell sufferers ...
Pauling was convinced that sickle cell disease was caused by defective hemoglobin, and set Itano to find out what made sickle ... He found that, under certain conditions, sickle cell hemoglobin is positively charged while normal hemoglobin is not, creating ... which by 1958 he determined to be a valine in the sickle cell mutant hemoglobin in place of glutamic acid in normal hemoglobin ... Itano used electrophoresis to demonstrate the difference between normal hemoglobin and sickle cell hemoglobin; their 1949 paper ...
"It's in the Blood! A Documentary History of Linus Pauling, Hemoglobin and Sickle Cell Anemia" website, Oregon State University ... Hemoglobin and Sickle Cell Anemia, The Valley Library, Oregon State University (accessed December 3, 2008) Letter from Linus ... During the late 1930s he engaged in research on the structure of hemoglobin in association with Linus Pauling. He also taught ... Caltech THESIS : A Caltech Library Service Early Hemoglobin Investigations, It's in the Blood! A Documentary History of Linus ...
Hemoglobin, and Sickle Cell Anemia; and Key Participants: Robert B. Corey - Linus Pauling and the Race for DNA: A Documentary ...
Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH (March 2008). "Fetal hemoglobin in sickle cell anemia ...
She works on the pathophysiology of haemoglobin disorders including sickle cell disease and thalassemia. Thein was born in ... a remediating factor is the ability to produce foetal haemoglobin (HbF). Foetal haemoglobin is the haemoglobin that transports ... Her work considers the pathophysiology of haemoglobin disorders; which include sickle cell disease and thalassemia. The only ... "Professor Swee Lay Thein". South Thames Sickle Cell & Thalassaemia Network. Retrieved 2019-10-04. "American Sickle Cell Anemia ...
Dover, GJ; Brusilow S; Charache S (1 July 1994). "Induction of fetal hemoglobin production in subjects with sickle cell anemia ... Trompeter, S; Roberts I (2009). "Haemoglobin F modulation in childhood sickle cell disease". British Journal of Haematology. ... treatment of some sickle-cell disorders as an alternative to hydroxycarbamide due it inducing expression of fetal hemoglobin to ... replace missing adult hemoglobin. While small-scale investigation is proceeding, there is to date no published data to support ...
... sickle-shaped cells due to a mutation affecting hemoglobin A, the main form of hemoglobin in adults. When cells sickle they can ... They found that hydroxyurea treatment could increase recipients' blood levels of hemoglobin F, a form of hemoglobin primarily ... effects on hemoglobin F production in patients with sickle cell anemia". Blood. 79 (10): 2555-2565. doi:10.1182/blood.V79.10. ... "What Is Sickle Cell Disease?". National Heart, Lung, and Blood Institute. June 12, 2015. Archived from the original on March 6 ...
Levinthal C, Wodak SJ, Kahn P, Dadivanian AK (1975). "Hemoglobin Interactions in Sickle Cell Fibers: I. Theoretical Approaches ...
Sickle patients can suffer from sickle crisis, these are painful events in which if in the jaw can mimic dental pain and facial ... Thalasseamias is a group of inherited genetic disorders that affect the haemoglobin synthesis; it can result in either a ... The dental pulp can be affected by sickling and there may be a delayed eruption and hypoplasia of the dentition. Sickle ... Sickle cell disease is a hereditary genetic condition that results in deformed red blood cells to be formed. ...
PGLYRP1 variants are also associated with increased fetal hemoglobin in sickle cell disease. Several diseases are associated ... June 2020). "Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell ...
Ashley-Koch, A (2000). "Sickle Hemoglobin (Hb S) Allele and Sickle Cell Disease: A HuGE Review" (PDF). American Journal of ... Increased deoxygenation causes sickling of red blood cells, which adhere to the spleen wall and splenic macrophages causing ... "Autosplenectomy" with sickle cell anemia, gross at WebPath, The Internet Pathology Laboratory for Medical Education at Mercer ... Autosplenectomy can occur in cases of sickle-cell disease where the misshapen cells block blood flow to the spleen, causing ...
The first use of computers was in a study on hemoglobin interaction in sickle-cell fibres. This was followed in 1978 by work on ... "Hemoglobin Interactions in Sickle Cell Fibers: I. Theoretical Approaches to the Molecular Contacts". Proceedings of the ...
with G.I. Abu-Haydar and N.A. Abu-Haydar) "Thalassemia Hemoglobin E. Disease. A Case Report from Quatar." Persian Gulf, Man., ... with N.A. Abu-Haydar) "Sickle Cell Disease in Lebanon and Syria." Acta Haemat., Basel XXVII (1962):268-273. ( ...
Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia). Defective ... Hemoglobin may be cleared directly by the kidneys resulting in fast clearance of free hemoglobin but causing the continued loss ... hemoglobin+hemosiderin+hemolysis+bilirubin&ei=Z2P_SuzwA6D2ygT9vOz3Dg#v=onepage&q=hemoglobin%20hemosiderin%20hemolysis% ... hemoglobin+hemosiderin+hemolysis+bilirubin&ei=Z2P_SuzwA6D2ygT9vOz3Dg#v=onepage&q=hemoglobin%20hemosiderin%20hemolysis% ...
Detecting Sickle Haemoglobin. Br Med J 1972; 4 doi: https://doi.org/10.1136/bmj.4.5836.376-a (Published 11 November 1972) Cite ...
Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia.. Platt OS, Orkin SH, Dover G, Beardsley GP, Miller B, ... increases fetal hemoglobin production in anemic monkeys. To determine its effect in sickle cell anemia, we treated two patients ... Hemoglobin of patient I increased from 9.0 to 10.5 g/dl and in patient II from 6.7 to 9.9 g/dl. Additional single-day courses ... In patient II the increase was from 8.7 +/- 1.2 to 50.0 +/- 2.0%. Fetal hemoglobin increased from 7.9 to 12.3% in patient I and ...
Sickle cell hemoglobin definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. ... Words nearby sickle cell hemoglobin. sickle cell, sickle-cell anaemia, sickle cell anemia, sickle cell C disease, sickle cell ... sickle cell hemoglobin, sickle cell retinopathy, sickle cell syndrome, sickle-cell test, sickle cell-thalassemia disease, ... In the lungs hemoglobin forms a loose combination with oxygen, which it readily gives up when it reaches the tissues. ...
Accelerated autoxidation and heme loss due to instability of sickle hemoglobin.. Hebbel RP1, Morgan WT, Eaton JW, Hedlund BE. ... We have examined rates of heme transfer to hemopexin from hemoglobin in dilute aqueous solution (0.5 mg of Hb per ml) at 37 ... The pleiotropic effect of the sickle gene suggests that factors in addition to polymerization of the mutant gene product might ... rather than to some other type of instability inherent in the relationship of sickle heme to its pocket in globin. This ...
In a study that challenges currently held views, researchers unravel the molecular mechanism whereby sickle cell hemoglobin ... Mystery solved: How sickle hemoglobin protects against malaria. Thursday, April 28, 2011. These are normal and sickle red blood ... Yves Beuzards laboratory, that had been genetically engineered to produce one copy of sickle hemoglobin similar to sickle cell ... Several studies suggested that, in one way or another, sickle hemoglobin might get in the way of the Plasmodium parasite ...
Because fetal hemoglobin is unaffected by the genetic defect in sickle cell disease, these cell culture findings may open the ... Hematology researchers have manipulated key biological events in adult blood cells to produce a form of hemoglobin normally ... Because this fetal hemoglobin is unaffected by the genetic defect in sickle cell disease (SCD), the cell culture findings may ... Flipping a gene switch reactivates fetal hemoglobin, may reverse sickle cell disease In lab studies, CHOP researchers reprogram ...
Effect of fetal hemoglobin on microvascular regulation in sickle transgenic-knockout mice. ... Effect of fetal hemoglobin on microvascular regulation in sickle transgenic-knockout mice. ... In sickle cell disease, intravascular sickling and attendant flow abnormalities underlie the chronic inflammation and vascular ... However, the relationship between sickling and vascular tone is not well understood. We hypothesized that sickling-induced vaso ...
Interest has been elicited in the mechanism involved in the successful reversal and prevention of the sickling of erythrocytes ... Sickle Cell Sickle Cell Anemia Patient Cyanic Acid Finger Print Hemoglobin Molecule These keywords were added by machine and ... Carbamyl Phosphate Modification of Hemoglobin S Structure Resulting in Altered Sickling. In: Brewer G.J. (eds) Hemoglobin and ... Murayama, M. (1971). In "Molecular Aspects of Sickle Cell Hemoglobin" (R. M. Nalbandian, ed.). Chas. C. Thomas Co., Springfield ...
Abnormal Hemoglobin Sickle Cell Pain Control. Our commitment to pain management. The health care team at Childrens Minnesota ...
A Triazole Disulfide Compound Increases the Affinity of Hemoglobin for Oxygen and Reduces the Sickling of Human Sickle Cells. ... Sickle" by people in Harvard Catalyst Profiles by year, and whether "Hemoglobin, Sickle" was a major or minor topic of these ... Association of Sickle Cell Trait and Hemoglobin S Percentage with Physical Fitness. Med Sci Sports Exerc. 2018 12; 50(12):2488- ... "Hemoglobin, Sickle" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ...
... and increase in fetal hemoglobin (Hb) production in response to the drug. Plasma hydroxyurea clearances were not a useful guide ... Patients with sickle cell anemia were treated with daily doses of hydroxyurea, to assess pharmacokinetics, toxicity, ... Hydroxyurea: effects on hemoglobin F production in patients with sickle cell anemia Blood. 1992 May 15;79(10):2555-65. ... Patients with sickle cell anemia were treated with daily doses of hydroxyurea, to assess pharmacokinetics, toxicity, and ...
Gum Arabic as Fetal Hemoglobin Agent in Sickle Cell Anemia. The safety and scientific validity of this study is the ... Induction of fetal hemoglobin in the treatment of sickle cell disease. Hematology Am Soc Hematol Educ Program. 2006:58-62. ... The purpose of this study is to determine whether Gum Arabic is effective as fetal hemoglobin inducing agent for sickle cell ... Gum Arabic as fetal hemoglobin inducing agent in sickle cell anemia; in vivo study. BMC Hematol. 2015 Dec 29;15:19. doi: ...
Efficacy of Vorinostat to Induce Fetal Hemoglobin in Sickle Cell Disease. The safety and scientific validity of this study is ... Efficacy of Vorinostat to Induce Fetal Hemoglobin in Sickle Cell Disease. Official Title ICMJE A Phase II Pharmacodynamic ... To describe the dose-response characteristics of vorinostat in inducing fetal hemoglobin in sickle cell disease [ Time Frame: 2 ... To describe the dose-response characteristics of vorinostat in inducing fetal hemoglobin in sickle cell disease. ...
The Hemoglobin Solubility test is used to help identify the presence of Hemoglobin S. The test may also detect sickling ... The Hemoglobin Solubility test is used to help identify the presence of Hemoglobin S. The test may also detect sickling ... The Hemoglobin Solubility test is used to help identify the presence of Hemoglobin S. The test may also detect sickling ... Sample Result: Hemoglobin Solubility, Sickle Cell Anemia. This browser does not support inline PDFs. To view the Sample Results ...
Haemoglobin and Sickle Cell Anaemia Embedded video for Haemoglobin and Sickle Cell Anaemia. ...
... clinicaltrials.gov Sickle Cell Disease (SCD) is a hereditary anemia that causes the red blood cells to change their shape from ... Hemoglobin Sc Disease. One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It ... Hemoglobin, Sickle. An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the ... More From BioPortfolio on "Efficacy of Vorinostat to Induce Fetal Hemoglobin in Sickle Cell Disease". *Related Companies* ...
Hemoglobin SS and S were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad. ... PubMed journal article Kidney Disease among Patients with Sickle Cell Disease, ... Hemoglobin C. Hemoglobin SC Disease. Hemoglobin, Sickle. Historically Controlled Study. Humans. Kidney. Kidney Diseases. Male. ... Kidney Disease Among Patients With Sickle Cell Disease, Hemoglobin SS and SC. Clin J Am Soc Nephrol. 2016 Feb 5;11(2):207-15. ...
Yves Beuzards laboratory, that had been genetically engineered to produce one copy of sickle hemoglobin similar to sickle cell ... Sickle Hemoglobin Confers Tolerance to Plasmodium Infection. Cell In Press (2011).. Contact: Silvia Castro. [email protected]. ... Several studies suggested that, in one way or another, sickle hemoglobin might get in the way of the Plasmodium parasite ... Ana Ferreira went on to show that the protection afforded by sickle hemoglobin in these mice, acts without interfering directly ...
... Fortunatus C. ... "Interaction of Normal and Sickle Hemoglobins for Sodium Dodecylsulphate and Hydrogen Peroxide at pH 5.0 and 7.2," ISRN ...
Hemoglobin Interaction: Modification of Solid Phase Composition in the Sickling Phenomenon Message Subject. (Your Name) has ... Hemoglobin Interaction: Modification of Solid Phase Composition in the Sickling Phenomenon. By John F. Bertles, Rosanne ... Hemoglobin Interaction: Modification of Solid Phase Composition in the Sickling Phenomenon. By John F. Bertles, Rosanne ... Direct analyses of solid phase formed by deoxygenating solutions of sickle-cell hemoglobin (Hb S) in the presence of certain ...
Computer graphic of two molecules of sickle cell haemoglobin showing the mutation (red) that causes sickle cell anaemia. ... In sickle cell anaemia a single mutation results in the replacement of the amino acid glutamic acid by valine (red) at residue ... Caption: Sickle cell haemoglobin. Computer graphic of two molecules of sickle cell haemoglobin showing the mutation (red) that ... haemoglobin s, hb in, healthcare, medical, medicine, molecular graphic, mutation, protein, sickle cell, sickle cell anaemia, ...
... Hazel ... "Pulmonary Thromboembolism in a Child with Sickle Cell Hemoglobin D Disease in the Setting of Acute Chest Syndrome," Case ...
Because the child inherits a defective gene designating sickle cell anemia and another designating hemoglobin C disease from ... However, sickle-hemoglobin C symptoms are usually less severe than sickle cell anemia symptoms. This means that treatments, ... sickle-hemoglobin C (Hb S-C) disease is very similar to sickle cell anemia. The symptoms and treatments of the disorders are ... Because the child inherits a defective gene designating sickle cell anemia and another designating hemoglobin C disease from ...
Sickle cell hemoglobin D disease, sometimes referred to as drepanocytosis hemoglobin D disease or hemoglobin S-D disease, was ... Sickle Cell Hemoglobin D Disease in a Negro Colombian Patient ALBERTO M. RESTREPO, M.D.; OSCAR G. LONDOÑO, M.D. ... Sickle Cell Hemoglobin D Disease in a Negro Colombian Patient. Ann Intern Med. 1965;62:1301-1306. doi: 10.7326/0003-4819-62-6- ... The present study describes the findings in an additional patient with sickle cell hemoglobin D disease. ...
Gelation of Sickle Cell Hemoglobin: Effects of Hybrid Tetramer Formation in Hemoglobin Mixtures ... Gelation of Sickle Cell Hemoglobin: Effects of Hybrid Tetramer Formation in Hemoglobin Mixtures ... Gelation of Sickle Cell Hemoglobin: Effects of Hybrid Tetramer Formation in Hemoglobin Mixtures ... Gelation of Sickle Cell Hemoglobin: Effects of Hybrid Tetramer Formation in Hemoglobin Mixtures ...
... effects of fetal hemoglobin and alpha thalassemia. Download Prime PubMed App to iPhone, iPad, or Android ... Heterogeneity of sickle cell disease as shown by density profiles: ... Intracellular polymerization of sickle hemoglobin: disease severity and therapeutic goals.. *Hemoglobin distribution width: a ... Anemia, Sickle CellCentrifugation, Density GradientErythrocytesFetal HemoglobinGenotypeHumansThalassemia ...
Twenty three (23) of them had sickle cell anaemia. Out of the 23 cases 10 (43.5%) were males and 13 (56.5%) were females. Male ... Conclusions: There exist errors in assigning genotypes to parents which at the end made them have children with sickle cell ... "Sickle Cell Anaemia: Errors in Haemoglobin Genotyping: Impact on Parents of Children Attending Two Hospitals in South East ... Pattern and factors associated with hemoglobin genotype testing among children attending a University Teaching Hospital in ...
Sickle Cell Anemia. Hemoglobin Structure, Sickle Cell Hemoglobin, Sickle Cell Anemia, Affected Populations, Causes And ... Sickle-shaped cells-also called sickle cells-die much more rapidly than normal red blood cells, and the body cannot create ... Hemoglobin molecules constructed with such proteins have a tendency to stick to one another, forming strands of hemoglobin ... Sickle cell anemia is an inherited blood disorder that arises from a single amino acid substitution in one of the component ...
Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome ... Nonaneurysmal Subarachnoid Hemorrhage in Sickle Cell Disease: Description of a Case and a Review of the Literature ... Teaching NeuroImages: Intracranial vertebral dissection in a 15-year-old boy with sickle cell disease ... Subarachnoid Hemorrhage with and without Concomitant Sickle Cell Disease, a Comparison Using the Nationwide Inpatient Sample ( ...
The Cooperative Study of Sickle Cell Disease found that approximately 26% of patients with hemoglobin SS sickle cell disease ... and hematocrit in a cohort of patients with hemoglobin SS sickle cell disease, the most severe form of sickle cell disease. ... METHODS: A cohort of 49 patients was examined, all of whom had hemoglobin SS sickle cell disease but no history of clinical ... A cohort of 49 patients with hemoglobin SS sickle cell disease was examined, all of whom had no history of clinical stroke and ...
  • Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. (nih.gov)
  • To determine its effect in sickle cell anemia, we treated two patients with a total of four, 5-d courses (50 mg/kg per d, divided into three oral doses). (nih.gov)
  • This observation suggests that hydroxyurea is a potentially useful agent for the treatment of sickle cell anemia and that demethylation of the gamma-globin genes accompanies increased gamma-globin gene activity. (nih.gov)
  • Sickle cell anemia is a blood disease in which red blood cells reveal an abnormal crescent (or sickle) shape when observed under a conventional microscope. (labspaces.net)
  • The cause of sickle cell anemia was attributed unequivocally to a single base substitution in the DNA sequence of the gene encoding the beta chain of hemoglobin, the protein that carries oxygen in red blood cells. (labspaces.net)
  • Only those individual that inherit two copies of the sickle mutation (one from their mother and the other from their father) develop sickle cell anemia. (labspaces.net)
  • Individuals carrying just one copy of the sickle mutation (inherited from either the father or mother) were known not to develop sickle cell anemia, leading rather normal lives. (labspaces.net)
  • The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. (harvard.edu)
  • Patients with sickle cell anemia were treated with daily doses of hydroxyurea, to assess pharmacokinetics, toxicity, and increase in fetal hemoglobin (Hb) production in response to the drug. (nih.gov)
  • The purpose of this study is to determine whether Gum Arabic is effective as fetal hemoglobin inducing agent for sickle cell anemia patients. (clinicaltrials.gov)
  • 1. patients received blood transfusion within the last three months or admitted to the hospital within 2 weeks because of Sickle cell anemia -related events or crisis. (clinicaltrials.gov)
  • Sickle Cell Disease (SCD) is a hereditary anemia that causes the red blood cells to change their shape from a round and doughnut-like shape to a half-moon/crescent, or sickled shape. (clinicaltrials.gov)
  • The Hemoglobin Solubility test is used to help identify the presence of Hemoglobin S. The test may also detect sickling hemoglobins, and may be used to evaluate hemolytic anemia. (healthtestingcenters.com)
  • Sickle cell disease (SCD) is an inherited anemia that afflicts millions worldwide. (unboundmedicine.com)
  • Because the child inherits a defective gene designating sickle cell anemia and another designating hemoglobin C disease from each parent, sickle-hemoglobin C (Hb S-C) disease is very similar to sickle cell anemia. (sharecare.com)
  • However, sickle-hemoglobin C symptoms are usually less severe than sickle cell anemia symptoms. (sharecare.com)
  • In sickle cell anemia patients, the median cell density values are not very different from the normal ones. (unboundmedicine.com)
  • Sickle cell anemia is an inherited blood disorder that arises from a single amino acid substitution in one of the component proteins of hemoglobin. (jrank.org)
  • Sickle cell anemia primarily affects people with African, Mediterranean, Middle Eastern, and Indian ancestry. (jrank.org)
  • Children with sickle cell anemia have delayed growth and reach puberty at a later age than normal. (jrank.org)
  • Early identification of sickle cell anemia can prevent many problems. (jrank.org)
  • Sickle cell anemia cannot be cured-other than through a risky bone marrow transplant-but treatments are available for symptoms. (jrank.org)
  • Pain is one of the primary symptoms of sickle cell anemia, and controlling it is an important concern. (jrank.org)
  • Emphasis is being placed on developing drugs that treat sickle cell anemia directly. (jrank.org)
  • Bone marrow transplantation has been shown to cure sickle cell anemia in severely affected children. (jrank.org)
  • A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells , and irreversibly sickled cells. (nih.gov)
  • In sickle cell anemia, polymerization of hemoglobin in its deoxy state leads to the formation of insoluble fibers that result in sickling of red blood cells. (biochemj.org)
  • These conformational insights in the inhibition of HbS polymerization upon glutathionylation might be translated in the molecularly targeted therapeutic approaches for sickle cell anemia. (biochemj.org)
  • A Documentary History of Linus Pauling, Hemoglobin and Sickle Cell Anemia - Special Collections & Archives Research Center - Oregon State University. (scinfo.org)
  • Source: "Sickle Cell Anemia, a Molecular Disease. (scinfo.org)
  • Linus Pauling makes a suggestion to Harvey Itano about using sodium nitrate to treat sickle cell anemia. (scinfo.org)
  • Background -Fetal hemoglobin (HbF) is the major modifier of the clinical course of sickle cell anemia. (ahajournals.org)
  • Methods and Results -We develop a collection of 14 models with GRS composed of different numbers of SNPs, and use the ensemble of these models to predict HbF in sickle cell anemia patients. (ahajournals.org)
  • The models were trained in 841 sickle cell anemia patients and were tested in three independent cohorts. (ahajournals.org)
  • Background : Fetal hemoglobin (HbF) levels in sickle cell anemia patients vary. (oregonstate.edu)
  • We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab-Indian (AI) haplotype and Benin haplotype of sickle cell anemia. (oregonstate.edu)
  • Conclusions : Common HbF BCL11A enhancer haplotypes in patients with African origin and AI sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF. (oregonstate.edu)
  • Correlation of haemoglobin-f levels with biochemical parameters in pediatric patients with sickle cell anemia from Jazan, Saudi Arabia. (alliedacademies.org)
  • To determine the Hb F levels and to correlate with Biochemical parameters such as Liver Function Test (LFT), Complete Blood Count (CBC) and disease severity in diagnosed cases of Sickle Cell Anemia (SCA) aged 1-16 years from Jazan Region of Saudi Arabia. (alliedacademies.org)
  • Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome, also known as hpfh-sickle cell disease syndrome , is related to neonatal anemia and spherocytosis, type 3 . (malacards.org)
  • Strong correlation of F-reticulocyte levels within sib pairs with sickle cell (SS) anemia suggests that the wide-ranging levels found in the SS population are governed by genes linked to the β s -site. (elsevier.com)
  • Sickle cell anemia is due to an abnormal globin chain in Hb. (scribd.com)
  • Hemoglobin S, the most common type of abnormal hemoglobin and the basis of both sickle cell trait and sickle cell anemia. (academic.ru)
  • Today, we'll be learning about sickle cell anemia. (pathologystorybook.com)
  • Sickle cell anemia is the ultimate morality tale about the importance of the little guy: in the 3 billion letters that make up your genome, one letter determines if you're healthy or sick. (pathologystorybook.com)
  • Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). (healthline.com)
  • What are the symptoms of sickle cell anemia? (healthline.com)
  • Symptoms of sickle cell anemia usually show up at a young age. (healthline.com)
  • The four main types of sickle cell anemia are caused by different mutations in these genes. (healthline.com)
  • Who is at risk for sickle cell anemia? (healthline.com)
  • What complications can arise from sickle cell anemia? (healthline.com)
  • The following are types of complications that can result from sickle cell anemia. (healthline.com)
  • Swollen hands and feet are often the first sign of sickle cell anemia in babies. (healthline.com)
  • Similarly, it is asked, what mutation causes sickle cell anemia? (askinglot.com)
  • Sickle - cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. (askinglot.com)
  • Why is hemoglobin low in sickle cell anemia? (askinglot.com)
  • Is Sickle Cell Anemia a substitution mutation? (askinglot.com)
  • The mutation causing sickle cell anemia is a single nucleotide substitution (A to T) in the codon for amino acid 6. (askinglot.com)
  • The form of hemoglobin in persons with sickle cell anemia is referred to as HbS. (askinglot.com)
  • What age group is affected by sickle cell anemia? (askinglot.com)
  • What is the inheritance pattern of sickle cell anemia? (askinglot.com)
  • Compared to controls the mice have decreased hematocrits, elevated reticulocyte counts, lower hemoglobin concentrations, and splenomegaly, which are all indications of the anemia associated with human sickle cell disease. (uab.edu)
  • Sickle cell disease, also called sickle cell anemia is a group of disorders that affects the molecule in red blood cells that deliver oxygen to the cells. (bartleby.com)
  • The most common, known sickle cell disease is sickle cell anemia. (bartleby.com)
  • 1) These disorders can have various afflictions, such as pain, damage and a low blood count--Sickle Cell Anemia. (bartleby.com)
  • Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype. (cdc.gov)
  • Nearly 80% of individuals born with sickle cell anemia live in sub-Saharan Africa, where most Plasmodium falciparum malaria cases and deaths occur ( 1 ). (pnas.org)
  • Thus, therapeutic approaches may target the "root cause" (ie, by replacement of the abnormal hemoglobin), as do stem cell transplantation and gene therapy, or one or more of the many damaging and interwoven pathways responsible for the disease's cardinal manifestations-episodic severely painful vaso-occlusive episodes (VOC), hemolytic anemia, and progressive multiorgan damage. (bloodjournal.org)
  • Sickle cell anemia (SCA) is a genetic blood disorder caused by abnormal inherited hemoglobin. (medindia.net)
  • Sickle cell anemia is the most common form of sickle cell disease. (medindia.net)
  • anemia is low hemoglobin. (blogspot.com)
  • Sickle cell anemia and Yellow eye. (blogspot.com)
  • There are diseases that are associated with sickle cell anemia. (blogspot.com)
  • 1 AP Biology Date SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE LEARNING OBJECTIVES Students will gain an appreciation of the physical effects of sickle cell anemia, its prevalence in the population, and the elevated incidence among Africans (and African-Americans). (docplayer.net)
  • 2 SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE Using Bioinformatics in Medicine BACKGROUND ON SICKLE CELL ANEMIA Sickle cell anemia is the one of the most common genetic disease in the United States with its highest incidence in African Americans. (docplayer.net)
  • The mouse model for sickle cell anemia would facilitate research on the pathophysiology of the disease and on the development and testing of anti-sickling drugs. (grantome.com)
  • We examined the genetic basis of HbA2 variability in sickle cell anemia using genome-wide association studies. (cdc.gov)
  • In sickle cell anemia, levels of HbA2 appear to be modulated by trans-acting genes that affect HBG expression and perhaps also elements within the β-globin gene cluster. (cdc.gov)
  • HealthDay)-For individuals with sickle cell disease, 1,500 mg of voxelotor increases hemoglobin levels and reduces the incidence of worsening anemia compared with placebo, according to a study published in the June 14 issue of the New England Journal of Medicine . (alternative-medicine-ny.com)
  • View of Fetal hemoglobin modifies the disease manifestation of severe Plasmodium falciparum malaria in adult patients with sickle cell anemia. (mjhid.org)
  • Sickle cell anemia (SCA) and Plasmodium falciparum malaria are two major public health problems in the state of Odisha, India. (mjhid.org)
  • The demographic and clinical features of severe Plasmodium falciparum malaria patients with sickle cell anemia (N=46). (mjhid.org)
  • Fetal hemoglobin (HbF) levels vary widely among individuals with sickle cell anemia (SS). (ox.ac.uk)
  • In addition, the patients no longer show the anemia associated with sickle cell disease. (childrenshospital.org)
  • Sickle cell anemia is caused by an A to T point mutation in the sixth codon of the β-globin ( HBB ) gene on chromosome 11 leading to the production of hemoglobin S (HbSS) during adult development. (intechopen.com)
  • Persons with sickle cell anemia can have symptoms such as yellow-appearing eyes and skin, pale skin, delayed growth, bone and joint pain, increased risk for infections, development of leg ulcers, eye damage, anemia and damage to the organs affected by the obstruction. (blausen.com)
  • Complete blood count (CBC) - this test screens for anemia, a condition that occurs when not enough oxygen is delivered to the cells of the body due to the presence of abnormal hemoglobin. (cdc.gov)
  • In contrast, the homozygous condition leads to sickle cell anemia. (pediaa.com)
  • Ever since Janet Watson's astute observation in 1948, the "protective" effect of HbF in persons with sickle cell anemia has been appreciated, and during the last several decades, increasing HbF levels by prescribing hydroxyurea has had salutary clinical effects. (blogspot.fi)
  • Now, Steinberg et al elegantly characterize a previously unappreciated third means of expressing the powerful ameliorative effects of HbF in patients with sickle cell anemia: ie, the percentage of erythrocytes containing ≥10 pg of HbF. (blogspot.fi)
  • In the BABY HUG trial, young children with sickle cell anemia randomized to receive hydroxyurea had fewer episodes of pain, hospitalization, and transfusions. (aappublications.org)
  • Outpatient expenses were based on the schedule required for BABY HUG and a "standard" schedule for 1- to 3-year-olds with sickle cell anemia. (aappublications.org)
  • Savings on inpatient care resulted in a significantly lower overall estimated medical care cost for young children with sickle cell anemia who were receiving hydroxyurea compared with those receiving placebo. (aappublications.org)
  • Persons with sickle cell anemia are known to have increased medical expenses, but little is known about the effects of hydroxyurea treatment on costs. (aappublications.org)
  • To ascertain the prevalence of and risk factors for obstructive sleep apnea syndrome (OSAS) in children with sickle cell anemia (SCA). (aappublications.org)
  • Obstructive sleep apnea syndrome (OSAS) prevalence in children with sickle cell anemia is not well described. (aappublications.org)
  • Children with sickle cell anemia have a high prevalence of OSAS with typical symptoms, beyond just nocturnal oxyhemoglobin desaturation. (aappublications.org)
  • 9 , 10 It is unknown whether these risk factors generalize to children with sickle cell anemia (SCA). (aappublications.org)
  • Several other human diseases, including cystic fibrosis, sickle-cell anemia, and oculocutaneous albinism, also exhibit an autosomal recessive inheritance pattern. (nature.com)
  • Cystic fibrosis is associated with recessive mutations in the CFTR gene, whereas sickle-cell anemia is associated with recessive mutations in the beta hemoglobin ( HBB ) gene. (nature.com)
  • Interestingly, although individuals homozygous for the mutant HBB gene suffer from sickle-cell anemia, heterozygous carriers are resistant to malaria. (nature.com)
  • This fact explains the higher frequency of sickle-cell anemia in today's African Americans, who are descendants of a group that had an advantage against endemic malaria if they carried HBB mutations. (nature.com)
  • Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (ox.ac.uk)
  • Fetal hemoglobin (HbF, α(2)γ(2)) is a major contributor to the remarkable phenotypic heterogeneity of sickle cell anemia (SCA). (ox.ac.uk)
  • These maps show the worldwide distribution of the mutation responsible for the sickle cell trait (a and b) and of malaria incidence (c). (labspaces.net)
  • However, it was found that these same individuals, said to carry the sickle cell trait, were in fact highly protected against malaria, thus explaining the high prevalence of this mutation in geographical areas where malaria is endemic. (labspaces.net)
  • These findings lead to the widespread believe in the medical community that understanding the mechanism whereby sickle cell trait protects against malaria would provide critical insight into developing treatment or a possible cure for this devastating disease, responsible for over a million premature deaths in sub-Saharan Africa. (labspaces.net)
  • In painstakingly detailed work, Ana Ferreira, a post-doctoral researcher in Miguel Soares' laboratory, demonstrated that mice obtained from Prof. Yves Beuzard's laboratory, that had been genetically engineered to produce one copy of sickle hemoglobin similar to sickle cell trait, do not succumb to cerebral malaria, thus reproducing what happens in humans. (labspaces.net)
  • Kidney Function Decline among Black Patients with Sickle Cell Trait and Sickle Cell Disease: An Observational Cohort Study. (harvard.edu)
  • Association of Sickle Cell Trait and Hemoglobin S Percentage with Physical Fitness. (harvard.edu)
  • Oxygen-dependent flow of sickle trait blood as an in vitro therapeutic benchmark for sickle cell disease treatments. (harvard.edu)
  • Common a-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. (harvard.edu)
  • About 4% of study subjects had co-existence of sickle cell Hb trait and G6PD deficiency. (biomedcentral.com)
  • There was no significant influence of the sickle cell trait on malaria incidence among older children of 1-9 years. (biomedcentral.com)
  • On hemoglobin electrophoresis, these patients have Hb S levels slightly higher than typically observed with sickle cell trait and a delay of hemoglobin F to adult levels. (scirp.org)
  • If you have only one copy of the gene, you are said to have sickle cell trait. (healthline.com)
  • People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. (healthline.com)
  • Children are only at risk for sickle cell disease if both parents carry sickle cell trait. (healthline.com)
  • The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (askinglot.com)
  • Children who only inherit one hemoglobin S gene have sickle cell trait, they do not have sickle cell disease. (bartleby.com)
  • People with sickle cell trait do not suffer any side effects that people who have sickle cell disease suffer from. (bartleby.com)
  • It is inherited when both parents of a child carry the sickle cell trait, also called SCT. (bartleby.com)
  • Some scientists, along with students at Kenyon college, claim that the sickle cell trait has evolved or has been naturally selected because it provides vital protection from malaria (Camperchioli). (bartleby.com)
  • Sickle cell trait has repeatedly been identified as a major human malaria resistance factor. (pnas.org)
  • Sickle cell trait (AS) confers partial protection against lethal Plasmodium falciparum malaria. (pnas.org)
  • Both patients with SS disease had vivax malaria , while of 5 with sickle cell trait 3 had only vivax, one only falciparum and one mixed infection . (bvsalud.org)
  • The carrier state or sickle cell trait is detected in 1:13 African Americans and 1:100 Hispanic Americans [ 3 ] with an estimated 2.5 million Americans with sickle cell trait [ 4 ]. (intechopen.com)
  • conditions that are has sickle cell disease (SCD) or sickle cell trait (SCT), blood tests must be done to screen for these conditions. (cdc.gov)
  • A Mean Corpuscular Volume (MCV) should be sent as part of the CBC as abnormalities can identify the presence of abnormal hemoglobin such as beta thalassemia trait. (cdc.gov)
  • If you are born with one sickle cell gene, it's called sickle cell trait. (medlineplus.gov)
  • People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children. (medlineplus.gov)
  • A blood test can show if you have SCD or sickle cell trait. (medlineplus.gov)
  • The pleiotropic effect of the sickle gene suggests that factors in addition to polymerization of the mutant gene product might be involved in sickle disease pathobiology. (nih.gov)
  • When patients with SCD undergo this transition, their inherited gene mutation distorts adult hemoglobin, forcing red blood cells to assume a sickled shape. (eurekalert.org)
  • In the current study, Rupon and Blobel reprogrammed gene expression to reverse the biological switch, causing cells to resume producing fetal hemoglobin, which is not affected by the SCD mutation, and produces normally shaped red blood cells. (eurekalert.org)
  • The loop then activated gene expression that produced embryonic hemoglobin in blood-forming cells from adult mice. (eurekalert.org)
  • R60 and the percentage of dense cells are not affected by the association of sickle cell disease with the deletion of one alpha gene. (unboundmedicine.com)
  • Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. (preprints.org)
  • SCD is triggered by a point mutation in the 6th codon of the β- globin gene in which 'T' is switched for 'A', altering a glutamic acid residue into a valine residue [ 8 ], and causing an altered β-globin chain, denoted to as sickle globin (βS). (alliedacademies.org)
  • An important gene associated with Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome is KLF1 (Kruppel Like Factor 1), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production . (malacards.org)
  • Inheriting the wrong gene for hemoglobin can cause extremely painful episodes, recurring infections, and even death. (pathologystorybook.com)
  • It occurs when you inherit copies of the hemoglobin S gene from both parents. (healthline.com)
  • Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
  • If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. (healthline.com)
  • It has been known for many years that hemoglobin can aggregate into 'crosslinked gels' within the red blood cells of carriers of the defective sickle hemoglobin gene. (ed.ac.uk)
  • Sickle cell disease is caused by a mutation in the hemoglobin -Beta gene found on chromosome 11. (askinglot.com)
  • The mutations in the gene cause a problem when oxygen levels in the blood are lower , which occurs once the hemoglobin has delivered oxygen to the cells in the body's tissues. (askinglot.com)
  • While the genetic mutation in the beta globin gene producing sickle hemoglobin (HbS) causes severe vascular complications that can lead to early death in individuals who are homozygous (SS) for the mutation, in its heterozygous form (AS), it partially protects against severe malaria caused by P. falciparum infection ( 2 ⇓ - 4 ). (pnas.org)
  • In the last few decades, research has opened up new paradigms for hemoglobin related to processes such as its role in the transport of nitric oxide and the complex developmental control of the α-like and β-like globin gene clusters. (bloodjournal.org)
  • A mutation in the gene for the beta hemoglobin subunit changes the 6 th amino acid (glutamic acid valine) in the polypeptide chain. (docplayer.net)
  • These effects are mediated by the association of these loci with γ-globin gene expression and fetal hemoglobin (HbF) levels. (cdc.gov)
  • The prevalence of sickle cell gene in the western part of Odisha is 13.1%,[ 1 ] P. falciparum contributes 23% of cases and 15% of malaria-related deaths in India. (mjhid.org)
  • So it is necessary to investigate this association in the regions with high prevalence of sickle cell gene and high endemicity of P. falciparum malaria. (mjhid.org)
  • A pilot gene therapy treatment for sickle cell disease, restoring patients' ability to make fetal hemoglobin, has produced good results in the first three patients to receive it. (childrenshospital.org)
  • And all indicators suggest that the gene therapy has "taken" and that sickling of red blood cells has been reduced. (childrenshospital.org)
  • The treatment silences BCL11A , the gene that shuts down fetal hemoglobin production. (childrenshospital.org)
  • Other trials are adding genes that encode fetal hemoglobin or corrected, non-sickling adult hemoglobin, without directly decreasing expression of the sickle hemoglobin gene. (childrenshospital.org)
  • Since cure by stem cell transplantation is only feasible for a minority and gene therapy remains developmental, pharmacological modification by Haemoglobin F (HbF)-inducers, is the most widely used approach in SCD. (ox.ac.uk)
  • For example, heterozygosity for the sickle HBB gene and hemoglobin C produces HbSC disease [ 1 ]. (intechopen.com)
  • The type of sickle cell hemoglobin is hemoglobin S with a variation in the β-chain gene, causing a change in the properties of hemoglobin, which results in the sickling of red blood cells. (pediaa.com)
  • The cause of SCD is a defective gene, called a sickle cell gene. (medlineplus.gov)
  • For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid. (wikipedia.org)
  • Hydroxyurea, a widely used cytotoxic/cytostatic agent that does not influence methylation of DNA bases, increases fetal hemoglobin production in anemic monkeys. (nih.gov)
  • Additional single-day courses of hydroxyurea every 7-20 d maintained the fetal hemoglobin of patient I t 10.8-14.4%, and the total hemoglobin at 8.7-10.8 g/dl for an additional 60 d. (nih.gov)
  • Hydroxyurea seems to work by inducing a higher production of fetal hemoglobin. (jrank.org)
  • A medication called hydroxyurea reduces sickling and is given in severe cases. (newbornscreening.on.ca)
  • We have studied the cellular and molecular responses to long-term hydroxyurea (HU) treatment in 29 severely affected young patients with sickle cell disease (mean age, 10.9 +- 4.1 years). (eurekamag.com)
  • Hydroxyurea is the only medication approved by the U.S. Food and Drug Administration for sickle cell disease, and there is strong evidence to support the efficacy and the cost effectiveness of using hydroxyurea is patients with sickle cell disease by increasing fetal hemoglobin levels. (biomedcentral.com)
  • Despite Food and Drug Administration (FDA) approval of hydroxyurea to reduce the frequency of vaso-occlusive episodes, sickle cell disease (SCD) has continued to be treated primarily with analgesics for pain relief. (bloodjournal.org)
  • It is noteworthy that this recent work has had implications for understanding and treating the prevalent diseases of hemoglobin, especially the use of hydroxyurea to elevate fetal hemoglobin in sickle cell disease. (bloodjournal.org)
  • The main action of Hydroxyurea is the induction of fetal hemoglobin, a potent modifier of SCD clinical severity. (intechopen.com)
  • The presence of high foetal haemoglobin had been documented to ameliorate the disease severity in the western world where children with SCD are routinely given hydroxyurea in order to induce the production of foetal haemoglobin and reduce frequent crises. (mjhid.org)
  • The only FDA-approved drug for SCD, hydroxyurea, induces fetal hemoglobin (HbF) production, decreases disease severity, and benefits overall mortality. (grantome.com)
  • In the lungs hemoglobin forms a loose combination with oxygen, which it readily gives up when it reaches the tissues. (dictionary.com)
  • In the normal course of development, a biological switch flips during the production of hemoglobin, the oxygen-carrying component of red blood cells. (eurekalert.org)
  • High-throughput assessment of hemoglobin polymer in single red blood cells from sickle cell patients under controlled oxygen tension. (harvard.edu)
  • A Triazole Disulfide Compound Increases the Affinity of Hemoglobin for Oxygen and Reduces the Sickling of Human Sickle Cells. (harvard.edu)
  • People who have SCD have a different type of hemoglobin (protein that carries oxygen). (clinicaltrials.gov)
  • Small molecules that increase the oxygen affinity of human hemoglobin may reduce sickling of red blood cells in patients with sickle cell disease. (harvard.edu)
  • We developed a high-throughput assay for evaluating the ability of the 427 small molecules to modulate the oxygen affinity of hemoglobin. (harvard.edu)
  • TD-1 induced a greater increase in oxygen affinity of human hemoglobin in solution and in red blood cells than did 5-hydroxymethyl-2-furfural (5-HMF), N-ethylmaleimide (NEM), or diformamidine disulfide. (harvard.edu)
  • TD-1 increased the oxygen affinity of sickle hemoglobin and inhibited in vitro hypoxia-induced sickling of red blood cells in patients with sickle cell disease without causing hemolysis. (harvard.edu)
  • The studied parameters were hemoglobin F (HbF), F reticulocytes (F retics), F cells, the amount of HbF per F cell (F/F cell), polymer tendency at 40% and 70% oxygen saturation, and hemolysis. (eurekamag.com)
  • The sickle-shaped cells contain defective haemoglobin, the iron-rich protein that enables red blood cells to carry oxygen from your lungs to the rest of the body. (stgeorges.nhs.uk)
  • Thalassaemia is a condition that, in its most severe form, causes abnormalities in haemoglobin, the component of blood that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs. (stgeorges.nhs.uk)
  • Sickle cell anaemia mutation changes the chemical properties of haemoglobin, the iron and protein complex that carries oxygen within red blood cells [ 10 ]. (alliedacademies.org)
  • The effects of low oxygen on γglobin synthesis and colony growth in methyl cellulose cultures of blood mononuclear cells from normal individuals and patients with sickle cell diseases were examined. (elsevier.com)
  • The interval required for maximal colony growth in cultures from patients with sickle cell disease (sickle colonies) was reduced from 17 days in 20% oxygen to 13 days in 5% oxygen. (elsevier.com)
  • The % γ was 1.7-fold higher in normal and 1.4-fold higher in sickle cultures on day 13 in low oxygen. (elsevier.com)
  • On day 16 the expected temporal decline was not seen in low oxygen, and the % γ was 2-fold higher in normal and 1.8-fold higher in the sickle studies. (elsevier.com)
  • In sickle cultures, hemin and low oxygen had additive effects on colony growth, but only low oxygen increased γglobin synthesis. (elsevier.com)
  • Interleukin-3 also increased γglobin synthesis in low oxygen in normal but not sickle cultures. (elsevier.com)
  • Thus, low oxygen increases in vitro sensitivity to erythropoietin, colony numbers, and relative γglobin synthesis in normal and sickle cultures. (elsevier.com)
  • It's been known for more than 40 years that in rare individuals, lingering production of the fetal form of hemoglobin - the oxygen-transporting protein found in red blood cells - can reduce the severity of certain inherited blood disorders, most notably sickle cell disease and thalassemia . (danafarberbostonchildrens.org)
  • 1. Hemoglobin is found exclusively in red blood cells (RBCs), where its main function is to transport oxygen (O2 ) from the lungs to the capillaries of the tissues. (scribd.com)
  • Sickle cell disease - A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest reaches of the body. (academic.ru)
  • Hemoglobin is the protein in red blood cells that carries oxygen. (healthline.com)
  • High cerebral blood flow velocity (CBFv) and low haemoglobin oxygen saturation (SpO(2)) predict neurological complications in sickle cell anaemia (SCA) but any association is unclear. (ox.ac.uk)
  • Hemoglobin transports oxygen from the lungs to other parts of the body. (askinglot.com)
  • An abnormal hemoglobin in which valine has replaced glutamic acid causing the hemoglobin to become less soluble under decreasing oxygen concentrations and to polymerize into crystals that distort the red blood cells into a sickle shape. (askinglot.com)
  • Sickle Cell Disease is a disorder where the red blood cells are sickle-shaped, which causes them to stick to vessel walls preventing much needed oxygen from traveling through the body. (bartleby.com)
  • The job of hemoglobin is to help transport oxygen and carbon dioxide to and from the cells throughout our body. (bartleby.com)
  • Hemoglobin ( Haemoglobin in many varieties of English and often abbreviated to 'Hb') is a tetramer consisting of two dimers that bind to oxygen. (wikibooks.org)
  • Hemoglobin is the oxygen-transporting protein of red blood cells and is a globular protein with a quaternary structure. (wikibooks.org)
  • Hemoglobin transports oxygen in the blood from the lungs to the rest of the body. (wikibooks.org)
  • The conformation of hemoglobin also changes as the oxygen binds to the iron, raising both the iron and the histidine residue bound to it. (wikibooks.org)
  • The oxygen affinity of hemoglobin decreases as the pH decreases. (wikibooks.org)
  • This is useful because, with a high affinity for oxygen in the lungs, hemoglobin can effectively bind to more oxygen. (wikibooks.org)
  • Once it reaches the muscle, where the pH is lower, the lowered affinity for oxygen allows hemoglobin to release its oxygen into the tissues. (wikibooks.org)
  • The affinity of hemoglobin for oxygen is less than its structural analog myoglobin. (wikibooks.org)
  • on the contrary, it allows hemoglobin to be a more efficient oxygen carrier than myoglobin. (wikibooks.org)
  • This is so because hemoglobin can release oxygen more easily than can myoglobin. (wikibooks.org)
  • Thus, hemoglobin's lower affinity for oxygen serves it well because it allows hemoglobin to release oxygen more easily in the body. (wikibooks.org)
  • For this reason, the body tends to use hemoglobin more often for oxygen-distributing purposes, although myoglobin is used as well, particularly for carrying oxygen to muscle cells. (wikibooks.org)
  • Also worth mentioning is the fact that fetal hemoglobin has a noticeably higher affinity for oxygen than does maternal hemoglobin. (wikibooks.org)
  • Basically, the hemoglobin present in the fetus is able to strip oxygen species from the maternal hemoglobin when the mother's blood comes into contact with fetal material. (wikibooks.org)
  • When oxygen is bound to hemoglobin, the color changes to crimson red. (wikibooks.org)
  • The disassociation curve represents how hemoglobin is cooperative to oxygen with its sigmoidal shape. (wikibooks.org)
  • Hemoglobin has a better chance to hold onto oxygen. (wikibooks.org)
  • At birth, approximately 80% of the infant's hemoglobin is fetal-type hemoglobin (Hb F), which has a greater affinity for oxygen than the adult type. (med-life.net)
  • The iron-containing protein (pigment) found in red blood cells.Hemoglobin transports oxygen from the lungs to the body's tissues. (medindia.net)
  • Cell specialised for oxygen transport, having a high concentration of hemoglobin in the cytoplasm. (medindia.net)
  • CONNECTIONS TO THE CURRICULUM Respiration/Circulatory system function of hemoglobin to carry oxygen in the blood from lungs to tissues Genetics mutations, inheritance of recessive alleles Protein structure and Function relationship of protein amino acid sequence to its 3D structure and function in the cell. (docplayer.net)
  • This change causes the hemoglobin molecules to stick together and to form fibers under low blood oxygen conditions. (docplayer.net)
  • A colony of mice will be produced that has hemoglobin with oxygen association-dissociation properties that are similar to human sickle cell hemoglobin (HbS). (grantome.com)
  • The hemoglobin of Hbag2/Hbag2;Hbbs2/Hbbs2 mice will have oxygen association-dissociation properties similar to that of Hbs. (grantome.com)
  • The oxygen association- dissociation and gelation properties of hemoglobins in MHOAH mice that express high levels of HbS or HbS Antilles will be studied. (grantome.com)
  • only 25 percent of the high oxygen affinity hemoglobin of MHOAH mouse would be deoxygenated at the same oxygen tension. (grantome.com)
  • Hemoglobin is a substance inside the red blood cell that delivers oxygen to all organs in the body. (cdc.gov)
  • Normal hemoglobin and sickle cell hemoglobin are two structural forms of hemoglobin, the iron-containing oxygen transport metalloprotein in the red blood cells of almost all vertebrates. (pediaa.com)
  • Moreover, hemoglobin is an iron-containing, oxygen-transport metalloprotein in red blood cells. (pediaa.com)
  • Also, the main function of hemoglobin is to transport oxygen from the lungs throughout the body. (pediaa.com)
  • Importantly, under low oxygen concentrations, sickle red blood cells tend to stick together at the branching points of veins. (pediaa.com)
  • This amount has been shown to inhibit deoxy sickle hemoglobin (HbS) polymer formation when the oxygen saturation is less than the 40% to 70% encountered in the microcirculation. (blogspot.fi)
  • In people with SCD, hemoglobin (the protein in red blood cells that carries oxygen) can form rigid protein strands in the blood cells that alter their shape. (sicklecellanemianews.com)
  • These sickle-shaped cells tend to stick to blood vessels to slow or stop blood flow, leading to a drop in oxygen levels in tissues and the attacks of severe pain known as vaso-occlusive crises . (sicklecellanemianews.com)
  • 14 Oxyhemoglobin desaturation is a well-known phenomenon in SCA resulting from a combination of calibration of the pulse oximeter for hemoglobin A, and not hemoglobin S, a rightward shift of the oxyhemoglobin dissociation curve, and dyshemoglobins, which are elevated in the presence of intravascular hemolysis but incapable of transporting oxygen. (aappublications.org)
  • Hemoglobin interaction in sickle cell fibers. (ac.be)
  • Computerized molecular model building has been used to deduce the arrangement of sickle cell hemoglobin molecules (Hb-S) in the tubular fibers which form within sickling cells and in concentrated cell-free solutions of deoxygenated Hb-S. A "best" solution has been found which satisfies all of the reported properties of these fibers. (ac.be)
  • Li H, Lykotrafitis G. A Coarse-Grained Molecular Dynamics Model for Sickle Hemoglobin Fibers. (asme.org)
  • We have studied the variations of twist and bend in sickle hemoglobin fibers. (elsevier.com)
  • Thus, we present the first quantitative evidence of a very significant material anisotropy in sickle hemoglobin fibers, as might arise from the difference between axial and lateral contacts within the fiber. (elsevier.com)
  • Our measurements inform a theoretical model of the thermodynamic stability of fibers that takes account of both bending and extension/compression of hemoglobin (double) strands within the fiber. (elsevier.com)
  • 1 The fundamental defect in sickle red blood cells (SS RBCs) is the insolubility of HbS when it becomes deoxygenated, leading to formation of polymers that aggregate into tubular fibers and, as they enlarge, deform red cells, causing the characteristic sickle shape. (bloodjournal.org)
  • Ultimately, this results in the sickle cell hemoglobin tetramers to stick to each other forming long fibers. (pediaa.com)
  • For these rigid strands - or fibers - to grow, hemoglobin first assembles in tiny liquid droplets of mesoscopic size (somewhere between microscopic and macroscopic). (sicklecellanemianews.com)
  • Such dimers "are key to the formation of the mesoscopic clusters," he added, that lead to the hemoglobin fibers seen in people with sickle cell disease . (sicklecellanemianews.com)
  • Silent white-matter changes (WMC) - permanent neurologic injuries that can cause cognitive deficits and intellectual decline - are common in patients with sickle cell disease (SCD) and are associated with low fetal hemoglobin (HbF) percentage, according to a study of adults with homozygous SCD without a history of stroke or vasculopathy. (ashclinicalnews.org)
  • Low fetal hemoglobin percentage is associated with silent brain lesions in adults with homozygous sickle cell disease. (ashclinicalnews.org)
  • The mutant allele (Hb S) is recessive to the normal allele (Hb A). Homozygous (Hb SS) recessive individuals have sickle cell disease. (docplayer.net)
  • 50% were boys, 99% were of African heritage, and 95% were homozygous for β S hemoglobin. (aappublications.org)
  • Through a series of genetic experiments, Ana Ferreira was able to show that the main player in this protective effect is heme oxygenase-1 (HO-1), an enzyme whose expression is strongly induced by sickle hemoglobin. (labspaces.net)
  • Because this fetal hemoglobin is unaffected by the genetic defect in sickle cell disease (SCD), the cell culture findings may open the door to a new therapy for the debilitating blood disorder. (eurekalert.org)
  • Hematologists have long sought to reactivate fetal hemoglobin as a treatment for children and adults with SCD, the painful, sometimes life-threatening genetic disorder that deforms red blood cells and disrupts normal circulation. (eurekalert.org)
  • Sickle cell disease is a genetic red blood cell disorder that can result in blocking of the small blood vessels from sickle shaped red blood cells. (bioportfolio.com)
  • Sickle Cell Disease is an inherited (genetic) disease of the red blood cells that causes ongoing health problems. (newbornscreening.on.ca)
  • The paper establishes sickle cell as a genetic disease. (scinfo.org)
  • Sickle cell disease (SCD) is an autosomal recessive genetic disease caused by a single point mutation, resulting in abnormal sickle hemoglobin (HbS). (onmedica.com)
  • Host genetic polymorphisms were assessed by PCR-RFLP, haemoglobin electrophoresis and DNA sequencing. (biomedcentral.com)
  • Hemoglobinopathies are a family of genetic disorders encompassing structural abnormalities of the haemoglobin molecule. (alliedacademies.org)
  • The simplicity of the genetic mutation that causes sickle cell disease (SCD) belies the complexity of the disease's pathophysiology. (bloodjournal.org)
  • The thalassemias are a group of genetic blood disorders that affect a person s ability to produce hemoglobin. (medindia.net)
  • Laboratory research, using physical, chemical, physiological, and genetic methods, has greatly contributed to, but also built upon, clinical research devoted to studying patients with a large variety of hemoglobin disorders. (bloodjournal.org)
  • Our understanding of the molecular basis of hemoglobin developmental and genetic control, structure-function relations, and its diseases and their treatment is probably unparalleled in medicine. (bloodjournal.org)
  • Fetal hemoglobin (HbF) is a strong modifier of sickle cell disease (SCD) severity and is associated with 3 common genetic loci. (bloodadvances.org)
  • Support for basic research will be expanded through funding of investigator-initiated grant applications and through NHLBI-initiated RFAs (requests for applications) focused on the pathophysiology of SCD, the biology of pain in SCD, fetal hemoglobin switching, and genetic modifiers of disease expression and progression. (nih.gov)
  • Confirm results with Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility ( 0050610 ). (aruplab.com)
  • A blood test called a hemoglobin electrophoresis can also determine which type you might carry. (healthline.com)
  • A definitive diagnosis of SCD can be made by hemoglobin electrophoresis, isoelectric focusing, or high-performance liquid chromatography. (intechopen.com)
  • Hemoglobin electrophoresis, high performance liquid chromatography (HPLC), or DNA testing which may be used to find out the type of hemoglobin present in a person's blood. (cdc.gov)
  • Regions where the sickle cell mutation occurs overlap neatly with areas in Africa where malaria is endemic. (labspaces.net)
  • Observations made during the mid-20th century and building on Pauling's findings, revealed that the sickle mutation is, in fact, highly, selected in populations from areas of the world were malaria is very frequent, with sometimes 10-40% of the population carrying this mutation. (labspaces.net)
  • Computer graphic of two molecules of sickle cell haemoglobin showing the mutation (red) that causes sickle cell anaemia. (sciencephoto.com)
  • In sickle cell anaemia a single mutation results in the replacement of the amino acid glutamic acid by valine (red) at residue 6 on the beta chain. (sciencephoto.com)
  • What mutation causes sickle cell hemoglobin? (askinglot.com)
  • Also Know, is the mutation found in sickle cell hemoglobin A point mutation or a frameshift mutation? (askinglot.com)
  • Where is the sickle cell mutation? (askinglot.com)
  • Sickle cell disease is caused by a mutation in the hemoglobin of red blood cells. (bartleby.com)
  • Sickle cell anaemia (SCA) is an autosomal recessive disorder characterized by a point mutation in codon 6 of the beta globin chain, where glutamic acid is replaced by valine, resulting in the formation of HbS with varied clinical manifestations 1 . (nature.com)
  • it's been known since the 1970s that some people with the sickle cell mutation keep producing fetal hemoglobin and have milder disease. (childrenshospital.org)
  • When the sickle mutation is combined with one of over 400 additional mutations reported in the HBB locus, different subtypes of sickle cell disease (SCD) are produced. (intechopen.com)
  • Here, sickle cell hemoglobin contains a single point mutation, which substitutes glutam ate (E/Glu) by valine (V/Val) at position 6 (E6V substitution). (pediaa.com)
  • High level of fetal haemoglobin (Hb F) decreases sickle cell anaemia (SCA) severity and leads to improved survival. (clinicaltrials.gov)
  • Sickled cells are extremely fragile with a reduced lifespan, leading to haemolytic anaemia [ 9 ]. (alliedacademies.org)
  • Individuals with two normal A alleles (AA) have normal haemoglobin, but subjects with two mutant S alleles (SS) develop sickle cell anaemia. (alliedacademies.org)
  • Acute chest syndrome (ACS) is a major complication of sickle cell anaemia (SCA) and a leading cause for hospital admissions and death. (nature.com)
  • Globally, sickle cell anaemia (SCA) is the most common inherited haematological disorder. (mjhid.org)
  • 2 ] Nigeria has the largest burden of sickle cell anaemia worldwide with about 150,000 affected babies being born annually. (mjhid.org)
  • It does so by binding to a DNA sequence - made up of the bases T-G-A-C-C-A - that lies just in front of the fetal hemoglobin genes. (danafarberbostonchildrens.org)
  • DNA molecules that contain the human α- and βs-globin genes inserted downstream of erythroid-specific, deoxyribonudease I super-hypersensitive sites were coinjected into fertilized mouse eggs and a transgenic mouse line was established that synthesizes human sickle hemoglobin (Hb S). These animals were bred to β-thalassemic mice to reduce endogenous mouse globin levels. (uab.edu)
  • People who are born with sickle cell disease inherit two abnormal hemoglobin genes called sickle hemoglobin, or hemoglobin S. Normal red blood cells are round and flexible but in a person with sickle cell disease their blood cells are crescent or sickle shaped and they are not flexible. (bartleby.com)
  • It occurs when a child inherits two hemoglobin S genes, one from each parent. (bartleby.com)
  • Over the last century, knowledge of the genetics, functions, and diseases of the hemoglobin proteins has been refined to the molecular level by analyses of their crystallographic structures and by cloning and sequencing of their genes and surrounding DNA. (bloodjournal.org)
  • This review attempts to highlight some recent developments in hemoglobin research most relevant to the hematologist in the context of the current understanding of the functions of these proteins and their genes. (bloodjournal.org)
  • MHOAH mice will be made transgenic for the human alpha- and sickle cell or sickle cell Antilles beta- globin genes to produce a transgenic mouse model for sickle cell disease. (grantome.com)
  • People with the disease are born with two sickle cell genes, one from each parent. (medlineplus.gov)
  • Voxelotor in adolescents and adults with sickle cell disease (HOPE): long-term follow-up results of an international, randomised, double-blind, placebo-controlled, phase 3 trial. (harvard.edu)
  • The purpose of this study is to determine the safety and clinical effects of SCD-101 when given to adults with sickle cell disease. (bioportfolio.com)
  • To continue studies on the two major neurological complications of sickle cell disease (SCD): namely, stroke and chronic encephalopathy. (bioportfolio.com)
  • Further complications arise because sickle cells do not fit well through small blood vessels, and can become trapped. (jrank.org)
  • Spectra Optia in three Emirati patients Management of acute and chronic complications of SCD includes red blood cell (RBC) transfusion and red cell ex- with sickle cell disease before change (RCE) by manual or automated methods [2]. (scribd.com)
  • SCD can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. (healthline.com)
  • The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. (healthline.com)
  • Why I always recommend green vegetables is that they are very low in iron which is not too good for people living with sickle cells.Complications arising from Iron overload can be sometimes fatal. (blogspot.com)
  • Urea is proposed to act reversibly by interfering with the hydrophobic bonding of hemoglobin molecules, (Murayama, 1971), while cyanate is reported to act irreversibly through the carbamyl ation of the amino terminal valines, (Cerami and Manning, 1971). (springer.com)
  • Hemoglobin molecules constructed with such proteins have a tendency to stick to one another, forming strands of hemoglobin within the red blood cells. (jrank.org)
  • We screened 38 700 compounds using small molecule microarrays and identified 427 molecules that bind to hemoglobin. (harvard.edu)
  • Each red blood cell contains two hundred and eighty million hemoglobin molecules. (bartleby.com)
  • The human hemoglobin molecules are a set of very closely related proteins formed by symmetric pairing of a dimer of polypeptide chains, the α- and β-globins, into a tetrameric structural and functional unit. (bloodjournal.org)
  • The functional properties of hemoglobin molecules are primarily determined by the characteristic folds of the amino acid chains of the globin proteins, including 7 stretches of the peptide α-helix in the α-chains and 8 in the β-chains ( Figure 1 ). (bloodjournal.org)
  • These droplets contain more hemoglobin than is found elsewhere in red blood cells, Lubchenko said, and may be evident as protein molecules very briefly bound togethers as "dimers or duos"- bound for about a fraction of a millisecond. (sicklecellanemianews.com)
  • Hematology researchers at The Children's Hospital of Philadelphia have manipulated key biological events in adult blood cells to produce a form of hemoglobin normally absent after the newborn period. (eurekalert.org)
  • Regulatory elements in DNA shift the body from producing the fetal form of hemoglobin to producing the adult form instead. (eurekalert.org)
  • The team obtained similar results in human adult red blood cells, forcing the cells to produce fetal hemoglobin. (eurekalert.org)
  • Soon after birth, HbF production slows down and another hemoglobin called adult hemoglobin (HbA) is made. (clinicaltrials.gov)
  • In a new paper in Cell , researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center have revealed how BCL11A controls the switch in the body's production of fetal hemoglobin to adult hemoglobin. (danafarberbostonchildrens.org)
  • Hemoglobin S differs from normal adult hemoglobin ( hemoglobin A) only by a single amino acid substitution (There is the substitution of the amino acid valine for the amino acid glutamine in the 6th position of the beta chain of globin). (academic.ru)
  • By age 6 months, all except 1%-2% is replaced by adult hemoglobin (Hb A). Persistence of large amounts of Hb F is abnormal. (med-life.net)
  • The α 2 β 2 molecule forms the major adult hemoglobin. (bloodjournal.org)
  • In the current study, the researchers used a specialized tool, a genetically engineered zinc finger (ZF) protein, which they custom-designed to latch onto a specific DNA site carrying the code for fetal hemoglobin. (eurekalert.org)
  • Typically, however, a protein called BCL11A switches off fetal hemoglobin production past infancy, but exactly how this happens has not been well understood until now. (danafarberbostonchildrens.org)
  • in the haemoglobin protein from glutamic acid to valine. (askinglot.com)
  • A single base-pair change (A→T), and the ensuing alteration of one amino acid (glutamic acid replaced by valine) in the β chain of hemoglobin (Hb), a protein only expressed in erythrocytes, nevertheless causes a multiorgan disease with many complex pathophysiologic mechanisms ( Figure 1 ). (bloodjournal.org)
  • Hemoglobin is a protein that is found in red blood cell. (blogspot.com)
  • Hemoglobin is a protein made of four subunits: 2 alpha polypeptide chains and 2 beta polypeptide chains. (docplayer.net)
  • The amount of fetal hemoglobin per erythroid burst colony-forming unit (BFU-E)-derived colony cell was unchanged, but the number of cells per BFU-E-derived colony increased. (nih.gov)
  • We are pleased to see a substantial and stable increase in total fetal hemoglobin and the amount of fetal hemoglobin per cell. (childrenshospital.org)
  • It increases the amount of fetal hemoglobin in the blood. (medlineplus.gov)
  • To determine the efficacy of vorinostat when administered orally in inducing a 4% absolute increase or a 100% increase in fetal hemoglobin levels in subjects with severe sickle cell disease who have failed prior therapy. (clinicaltrials.gov)
  • Just as the researchers had hoped, all three patients showed a significant increase in fetal hemoglobin. (childrenshospital.org)
  • The latter will induce fetal hemoglobin production and ameliorate patients' symptoms. (clinicaltrials.gov)
  • 47 patients hemoglobin SS aged 5-42 years, on regular follow up in Military hospital were recruited from April 2014 to January 2015 Patients received dose of G A 30g/day for 12 weeks. (clinicaltrials.gov)
  • To determine the retinal and choroidal thickness in patients with sickle cell disease compared to age, race matched population without sickle cell disease to allow a better understanding o. (bioportfolio.com)
  • Kidney Disease among Patients with Sickle Cell Disease, Hemoglobin SS and SC. (unboundmedicine.com)
  • Children with hemoglobin SS sickle cell disease are known to suffer cognitive impairment if they have silent infarct, but recent evidence suggests that patients with hemoglobin SS sickle cell disease may be impaired even if they are free of infarction. (ajnr.org)
  • A cohort of 49 patients was examined, all of whom had hemoglobin SS sickle cell disease but no history of clinical stroke. (ajnr.org)
  • However, new findings suggest that cognitive impairment can also be present in patients with sickle cell disease who are free of focal brain damage ( 2 ). (ajnr.org)
  • The incidence of mild mental deficiency was elevated at least 11-fold in a small sample of patients with sickle cell disease with no clinical history of stroke, and the full-scale intelligence quotient of these patients correlated with hematocrit ( 2 ). (ajnr.org)
  • Because this hypothesis has been controversial ( 4 ), we sought to elucidate the relationship between full-scale intelligence quotient, MR imaging, and hematocrit in a cohort of patients with hemoglobin SS sickle cell disease, the most severe form of sickle cell disease. (ajnr.org)
  • A cohort of 49 patients with hemoglobin SS sickle cell disease was examined, all of whom had no history of clinical stroke and were seen at our institution. (ajnr.org)
  • Most patients were tested as part of an ongoing, prospective study of sickle cell disease ( 2 ), and these patients were probably representative of patients with hemoglobin SS sickle cell disease at St. Jude. (ajnr.org)
  • Our study indicates that TD-1 represents a novel lead molecule for the treatment of patients with sickle cell disease. (harvard.edu)
  • We are a Specialist Haemoglobinopathy Centre providing comprehensive healthcare for patients with sickle cell disease, thalassaemia and rare anaemias living in the local area, and also providing specialist services (including apheresis, psychology and pain management) for other hospitals within our networks. (stgeorges.nhs.uk)
  • Effective sickle hemoglobin reduction by automated red cell exchange using Spectra Optia in three Emirati patients with sickle cell disease before allogeneic hematopoietic stem cell transplantation. (scribd.com)
  • Clinical characteristics of 3 patients with sickle cell disease. (scribd.com)
  • It is important to clarify the relationship between patients' nutritional status/intake and fetal hemoglobin levels. (biomedcentral.com)
  • Factors determining sickle cell disease severity, and the relationship between fetal hemoglobin level and patients nutritional status. (biomedcentral.com)
  • We reported an inverse correlation between number and day of hospitalizations per year and fetal hemoglobin levels with intake of carbohydrates, lipids, iron, phosphorus, vitamins B1, and B2, but with these data we don't want to suggest a beneficial effect of low intake of these nutritional elements for these patients. (biomedcentral.com)
  • We would like to highlight that these data were unexpected even for us and further studies with more patients are needed to clarify the relationship between nutritional intake and fetal hemoglobin irrespectively from HU therapy. (biomedcentral.com)
  • Some sickle cell patients will sustain enough damage to their spleen that it becomes shrunken and ceases to function at all. (healthline.com)
  • One of the first things that patients with sickle cell want to know is how they can increase their hemoglobin. (blogspot.com)
  • Elliott Vichinsky, M.D., from the University of California at San Francisco, and colleagues conducted a randomized placebo-controlled trial involving 274 patients with sickle cell disease to compare the efficacy and safety of two dose levels of voxelotor (1,500 and 900 mg) to placebo. (alternative-medicine-ny.com)
  • 2,3 ] Though several factors are responsible for the disease severity in P. falciparum malaria in patients with SCA, it was recently found that fetal hemoglobin (HbF), a physiological hemoglobin usually found higher in patients with SCA had a negative epistatic interaction with HbS during protection against malaria. (mjhid.org)
  • p, 0.015), which indicates that patients with higher % HbF level had lower total hemoglobin level. (mjhid.org)
  • Increased platelet activation is recognized in patients with sickle cell disease (SCD), but its pathogenesis and clinical relevance remain uncertain. (elsevier.com)
  • But in the other two patients, red blood cells containing fetal hemoglobin made up about 70 percent of all red blood cells. (childrenshospital.org)
  • Sickle Hb was found in 7 (11.5%) patients and G-6PD deficiency in 3 (5%) cases. (bvsalud.org)
  • Five hundred eighty-one patients with hemoglobin SS (HbSS) or HbSβ 0 thalassemia formed the "discovery" cohort. (bloodadvances.org)
  • We have investigated the influence of these 3 loci on HbF levels in sickle cell patients from Tanzania and in a small group of African British sickle patients. (ox.ac.uk)
  • My long-term research goal is to develop effective pharmacological interventions that can alleviate disease progression and improve the quality of life for patients with sickle cell disease (SCD). (grantome.com)
  • Stereo-specific binding of isopropyl group of βVal6, the mutated amino-acid residue of a tetrameric sickle hemoglobin molecule (HbS), with hydrophobic groove of another HbS tetramer initiates the polymerization. (biochemj.org)
  • Two βS chains associate with two β-globin chains and become a variant haemoglobin molecule called sickle haemoglobin (HbS). (alliedacademies.org)
  • Recognition of this tiny change in the hemoglobin molecule marked the opening of the era of molecular medicine. (academic.ru)
  • During the past 60 years, the study of human hemoglobin, probably more than any other molecule, has allowed the birth and maturation of molecular medicine. (bloodjournal.org)
  • 3 These 4 polypeptides of the hemoglobin tetramer each have a large central space into which a heme prosthetic group, an iron-protoporphyrin IX molecule, is bound by noncovalent forces, and thus the iron atom is protected from access of the surrounding aqueous solution. (bloodjournal.org)
  • These are normal and sickle red blood cells. (labspaces.net)
  • Several studies suggested that, in one way or another, sickle hemoglobin might get in the way of the Plasmodium parasite infecting red blood cells, reducing the number of parasites that actually infect the host and thus conferring some protection against the disease. (labspaces.net)
  • Ana Ferreira went on to show that the protection afforded by sickle hemoglobin in these mice, acts without interfering directly with the parasite's ability to infect the host red blood cells. (labspaces.net)
  • This different type of hemoglobin makes the red blood cells change into a crescent shape under certain conditions. (clinicaltrials.gov)
  • Clinical studies have shown that increasing the amount of HbF in the blood may prevent sickling of the red blood cells. (clinicaltrials.gov)
  • red blood cells to change their shape from a round and doughnut-like shape to a half-moon/crescent, or sickled shape. (bioportfolio.com)
  • In the process of dissecting further this mechanism of protection Ana Ferreira demonstrated that when produced in response to sickle hemoglobin the same gas, carbon monoxide, protected the infected host from succumbing to cerebral malaria without interfering with the life cycle of the parasite inside its red blood cells. (healthcanal.com)
  • Sickle-shaped cells-also called sickle cells-die much more rapidly than normal red blood cells, and the body cannot create replacements fast enough. (jrank.org)
  • Sickle Cell Disease causes red blood cells to "sickle" (change from a normal doughnut shape to a crescent moon shape). (newbornscreening.on.ca)
  • Sickled red blood cells can stick together and block blood vessels. (newbornscreening.on.ca)
  • Sickled red blood cells are more fragile than usual. (newbornscreening.on.ca)
  • Sickle cell disease and thalassaemia are lifelong, inherited disorders that affect the red blood cells. (stgeorges.nhs.uk)
  • During hypoxia or dehydration, HbS polymerizes to form insoluble aggregates and induces sickling of red blood cells (RBCs). (onmedica.com)
  • This HbS is less soluble in its deoxygenated state and polymerizes, producing a distorted, sickle like shape of the red blood cells. (alliedacademies.org)
  • Red blood cells with normal hemoglobin ( hemoglobin -A) are smooth and round and glide through blood vessels. (askinglot.com)
  • Sickle Cell Disease, also referred to as SCD, is a genetically inherited disease that causes abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in red blood cells. (bartleby.com)
  • Sickle cell disease is a group of inherited blood disorders that affects the red blood cells, specifically the hemoglobin. (bartleby.com)
  • Thalassemias has normal looking red blood cells, but the body does not make enough healthy cells or hemoglobin. (bartleby.com)
  • Hemoglobin is present specifically in our red blood cells. (bartleby.com)
  • DEOXYGENATED sickle haemoglobin polymerizes into long 210-Å diameter fibres that distort and decrease the deformability of red blood cells, and cause sickle cell disease. (elsevier.com)
  • Here are some natural ways to increase your red blood cells and hemoglobin count. (blogspot.com)
  • Almond Milk: Almond milk help to increase hemoglobin and also help the body create new blood cells. (blogspot.com)
  • This causes red blood cells to become distorted from their normal round shape to a sickle (crescent) shape. (docplayer.net)
  • Consequently, these sickle shaped red blood cells clump together and clog small blood vessels causing fever, great pain, and damage to organs (including brain damage). (docplayer.net)
  • The mutations causing sickle cell disease don't affect fetal hemoglobin, so the red blood cells that carry it would be expected not to sickle. (childrenshospital.org)
  • In persons with sickle cell disease, the red blood cells become crescent or sickle-shaped and also become inflexible. (blausen.com)
  • Moreover, normal hemoglobin allows red blood cells to have a biconcave shape, freely flowing through the veins, while sickle cell hemoglobin causes sickle red blood cells to become crescent, sticking at the branching points of the veins. (pediaa.com)
  • Normal hemoglobin is usually present in the red blood cells of vertebrates. (pediaa.com)
  • Specifically, hemoglobin A ( hemoglobin A1 or α 2 β 2 ) is the most common type of normal hemoglobin present in 95% of red blood cells. (pediaa.com)
  • Consequently, the polymerized sickle cell hemoglobin distorts sickle red blood cells into an abnormal sickle shape. (pediaa.com)
  • Generally, hemoglobin is the iron-contain metalloprotein, occurring in the red blood cells of all vertebrates. (pediaa.com)
  • With SCD, the hemoglobin forms into stiff rods within the red blood cells. (medlineplus.gov)
  • Droplets packed with hemoglobin may briefly form tiny clusters inside red blood cells that ultimately deform their shape, and cause the pain crises that mark sickle cell disease (SCD), a study reports. (sicklecellanemianews.com)
  • Rupon added that the approach may also prove useful in treating other diseases of hemoglobin, such as thalassemia. (eurekalert.org)
  • TY - JOUR T1 - Heterogeneity of sickle cell disease as shown by density profiles: effects of fetal hemoglobin and alpha thalassemia. (unboundmedicine.com)
  • Newborn screening can identify babies who have one of three different types of Sickle Cell Disease: Hemoglobin SS Disease, Hemoglobin SC Disease and Sickle/Beta-Thalassemia. (newbornscreening.on.ca)
  • The two commonest inherited disorders of haemoglobin that influence global well-being are β- thalassemia and Sickle Cell Disease (SCD). (alliedacademies.org)
  • Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
  • The hemoglobin variants including HbF was estimated by Cation-Exchange high performance liquid chromatography (CE-HPLC) using Variant II - β -thalassemia short program (Bio-Rad laboratories, Hercules). (mjhid.org)
  • However, DNA testing is required to detect the presence of β-thalassemia mutations, which when inherited with the sickle HBB causes HbS-β 0 -thalassemia and HbSβ + -thalassemia. (intechopen.com)
  • We examined contemporary and historical SCD populations to understand how renal disease behaved in hemoglobin SS (HbSS) compared with HbSC. (unboundmedicine.com)
  • Factors that modify the intraerythrocytic concentration of hemoglobin S may influence the clinical expression of the disease. (unboundmedicine.com)
  • Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome , ischemic brain injury, osteomyelitis and avascular bone necrosis. (nih.gov)
  • The combination of hemoglobin S and hemoglobin KW (Hb S/KW) is a rare double heterozygous disorder with little known clinical characteristics. (scirp.org)
  • It is the clinical expression of homozygosity for hemoglobin S. (lookfordiagnosis.com)
  • Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course, and offer prospects for curative therapy of sickle cell disease. (cdc.gov)
  • Much of our understanding of human physiology, and of many aspects of pathology, has its antecedents in laboratory and clinical studies of hemoglobin. (bloodjournal.org)
  • Our approach reverses the physiologic hemoglobin switch to simultaneously increase fetal hemoglobin and directly reduce sickling hemoglobin," says Williams, who is also the sponsor of the clinical trial. (childrenshospital.org)
  • These types of sickle cell disease are more rare and usually don't have severe symptoms. (healthline.com)
  • 4 ] The role of HbF against P. falciparum malaria in cases with normal hemoglobin genotypes has been widely studied and found to be protective against severe disease manifestation. (mjhid.org)
  • His sickle cell disease was severe and had required him to have monthly blood transfusions. (childrenshospital.org)
  • The three-dimensional structure of hemoglobin complexed with TD-1 revealed that monomeric units of TD-1 bound covalently to β-Cys93 and β-Cys112, as well as noncovalently to the central water cavity of the hemoglobin tetramer. (harvard.edu)
  • Two dimers combine to form a hemoglobin tetramer, which is the functional form of hemoglobin. (scribd.com)
  • The reversible binding of gases to these 4 ferrous iron atoms in the tetramer of globin polypeptides allows hemoglobin to transport O 2 , CO, and NO. 4 CO 2 is transported in the blood in solution and by interactions with the amino-terminal residues of hemoglobin as a weak carbamino complex and not by binding to the iron atoms. (bloodjournal.org)
  • Hemoglobin A2 , a tetramer of α- and δ-globin chains, comprises less than 3% of total hemoglobin in normal adults. (cdc.gov)
  • This site is a collaboration between members of the Emory Center for Digital Scholarship , the Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta , the Emory School of Medicine , and the Comprehensive Sickle Cell Center at Grady Health System , Atlanta, Georgia. (scinfo.org)
  • Sickle-shaped cells are a problem because they often get stuck in the blood vessels blocking the flow of blood and can cause inflammation and injury to important areas of the body. (clinicaltrials.gov)
  • Compared to normal controls the density distribution of sickle red cells is heterogeneous, reproducible for the same patient (except in case of crisis), while different from one to another. (unboundmedicine.com)
  • The highest levels of hemoglobin F are found in this median subpopulation of red cells, while they are very low in the densest cells. (unboundmedicine.com)
  • The cells that contain these strands become stiff and elongated-that is, sickle shaped. (jrank.org)
  • The trapped sickle cells form blockages that prevent oxygenated blood from reaching associated tissues and organs. (jrank.org)
  • Acute chest syndrome can occur at any age, and is caused by sickle cells blocking the small blood vessels of the lungs. (jrank.org)
  • An alternative sulfated nonanticoagulant heparin derivative (S-NACH) was previously reported to have none to low systemic anticoagulant activity and no bleeding side effects, and it interfered with P-selectindependent binding of sickle cells to endothelial cells, with concomitant decrease in the levels of adhesion biomarkers in SCD mice. (onmedica.com)
  • The sickle cells get trapped in the circulation causing ischemic organ damage and pain crises. (alliedacademies.org)
  • Sickle cells are easily broken. (healthline.com)
  • Sickle cells live for a maximum of 10 to 20 days. (healthline.com)
  • Splenic sequestration is a blockage of the splenic vessels by sickle cells. (healthline.com)
  • When erythrocytes from these mice were deoxygenated, greater than 90 percent of the cells displayed the same characteristic sickled shapes as erythrocytes from humans with sickle cell disease. (uab.edu)
  • The sickle-shaped cells can stick to the wall of the blood vessel and cause a blockage that can stop or slow the flow of blood. (bartleby.com)
  • We predict this strategy is a more efficient and effective way to reduce or even eliminate the sickling of cells. (childrenshospital.org)
  • HbF has been measured by its overall concentration in the blood or by the percentage of erythrocytes containing fetal hemoglobin (F cells). (blogspot.fi)
  • The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape. (medlineplus.gov)
  • The sickle-shaped cells are not flexible and cannot change shape easily. (medlineplus.gov)
  • The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. (medlineplus.gov)
  • The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. (medlineplus.gov)
  • This will be done by breeding a stock of mice that carry two mutations at the hemoglobin loci. (grantome.com)
  • Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. (preprints.org)
  • The study reported on the nutritional status among children with sickle cell disease (SCD) in relation to disease severity and other morbidity outcomes. (biomedcentral.com)
  • Response from the Authors of Effects of nutritional intake on disease severity in children with sickle cell disease. (biomedcentral.com)
  • Foetal haemoglobin (HbF) is a major modifying factor influencing sickle cell disease (SCD) severity. (mjhid.org)
  • 5 ] In Nigeria, there is a paucity of data on the influence of foetal haemoglobin levels on disease severity among children with SCA. (mjhid.org)
  • Hence, this study aimed at determining the relationship between foetal haemoglobin level and disease severity among children with SCA in steady state. (mjhid.org)
  • Effective sickle hemoglobin reduction least one abnormal sickle hemoglobin (HbS) allele. (scribd.com)
  • Oxidative stress contributes to the complex pathophysiology of sickle cell disease. (bioportfolio.com)
  • These findings show that impairment is multifactorial and suggest that chronic brain hypoxia is part of the pathophysiology of sickle cell disease. (ajnr.org)
  • To make this assembly work in the right place at the right time, the team hooked it to a promoter of beta hemoglobin expression, together with regulatory elements active only in red blood cell precursors. (childrenshospital.org)
  • The intracellular polymerization of deoxy sickle cell hemoglobin (HbS) has been identified as the main cause of sickle cell disease. (asme.org)