A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
Substances that are toxic to blood in general, including the clotting mechanism; hematotoxins may refer to the hematopoietic system.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
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)
Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
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.
Proteins from BACTERIA and FUNGI that are soluble enough to be secreted to target ERYTHROCYTES and insert into the membrane to form beta-barrel pores. Biosynthesis may be regulated by HEMOLYSIN FACTORS.
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.
Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
A test to detect non-agglutinating ANTIBODIES against ERYTHROCYTES by use of anti-antibodies (the Coombs' reagent.) The direct test is applied to freshly drawn blood to detect antibody bound to circulating red cells. The indirect test is applied to serum to detect the presence of antibodies that can bind to red blood cells.
A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.
A species of LENTIVIRUS, subgenus equine lentiviruses (LENTIVIRUSES, EQUINE), causing acute and chronic infection in horses. It is transmitted mechanically by biting flies, mosquitoes, and midges, and iatrogenically through unsterilized equipment. Chronic infection often consists of acute episodes with remissions.
A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.
A screening assay for circulating COMPLEMENT PROTEINS. Diluted SERUM samples are added to antibody-coated ERYTHROCYTES and the percentage of cell lysis is measured. The values are expressed by the so called CH50, in HEMOLYTIC COMPLEMENT units per milliliter, which is the dilution of serum required to lyse 50 percent of the erythrocytes in the assay.
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.
A method to identify and enumerate cells that are synthesizing ANTIBODIES against ANTIGENS or HAPTENS conjugated to sheep RED BLOOD CELLS. The sheep red blood cells surrounding cells secreting antibody are lysed by added COMPLEMENT producing a clear zone of HEMOLYSIS. (From Illustrated Dictionary of Immunology, 3rd ed)
Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.
A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN.
Diazo derivatives of aniline, used as a reagent for sugars, ketones, and aldehydes. (Dorland, 28th ed)
The type species of GYROVIRUS, a small, non-enveloped DNA virus originally isolated from contaminated vaccines in Japan. It causes chicken infectious anemia and may possibly play a key role in hemorrhagic anemia syndrome, anemia dermatitis, and blue wing disease.
A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
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.
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 number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
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 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.
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.
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.
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.
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.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
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.
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.
Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells.
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).
The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.
A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
Erythrocyte isoantigens of the Rh (Rhesus) blood group system, the most complex of all human blood groups. The major antigen Rh or D is the most common cause of erythroblastosis fetalis.
A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
Measurement of hemoglobin concentration in blood.
Serum glycoproteins participating in the host defense mechanism of COMPLEMENT ACTIVATION that creates the COMPLEMENT MEMBRANE ATTACK COMPLEX. Included are glycoproteins in the various pathways of complement activation (CLASSICAL COMPLEMENT PATHWAY; ALTERNATIVE COMPLEMENT PATHWAY; and LECTIN COMPLEMENT PATHWAY).
Exotoxins produced by certain strains of streptococci, particularly those of group A (STREPTOCOCCUS PYOGENES), that cause HEMOLYSIS.
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.
A clinical manifestation consisting of an unnatural paleness of the skin.
The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.
An important soluble regulator of the alternative pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It is a 139-kDa glycoprotein expressed by the liver and secreted into the blood. It binds to COMPLEMENT C3B and makes iC3b (inactivated complement 3b) susceptible to cleavage by COMPLEMENT FACTOR I. Complement factor H also inhibits the association of C3b with COMPLEMENT FACTOR B to form the C3bB proenzyme, and promotes the dissociation of Bb from the C3bBb complex (COMPLEMENT C3 CONVERTASE, ALTERNATIVE PATHWAY).
A toxin produced by SHIGELLA DYSENTERIAE. It is the prototype of class of toxins that inhibit protein synthesis by blocking the interaction of ribosomal RNA; (RNA, RIBOSOMAL) with PEPTIDE ELONGATION FACTORS.
An antigenic mismatch between donor and recipient blood. Antibodies present in the recipient's serum may be directed against antigens in the donor product. Such a mismatch may result in a transfusion reaction in which, for example, donor blood is hemolyzed. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984).
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.
Surgical procedure involving either partial or entire removal of the spleen.
Small cationic peptides that are an important component, in most species, of early innate and induced defenses against invading microbes. In animals they are found on mucosal surfaces, within phagocytic granules, and on the surface of the body. They are also found in insects and plants. Among others, this group includes the DEFENSINS, protegrins, tachyplesins, and thionins. They displace DIVALENT CATIONS from phosphate groups of MEMBRANE LIPIDS leading to disruption of the membrane.
Enlargement of the spleen.
Substances that are toxic to cells; they may be involved in immunity or may be contained in venoms. These are distinguished from CYTOSTATIC AGENTS in degree of effect. Some of them are used as CYTOTOXIC ANTIBIOTICS. The mechanism of action of many of these are as ALKYLATING AGENTS or MITOSIS MODULATORS.
Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.
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.
A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.
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.
The sequential activation of serum COMPLEMENT PROTEINS to create the COMPLEMENT MEMBRANE ATTACK COMPLEX. Factors initiating complement activation include ANTIGEN-ANTIBODY COMPLEXES, microbial ANTIGENS, or cell surface POLYSACCHARIDES.
The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood.
Toxic substances formed in or elaborated by bacteria; they are usually proteins with high molecular weight and antigenicity; some are used as antibiotics and some to skin test for the presence of or susceptibility to certain diseases.
A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
A subnormal level of BLOOD PLATELETS.
Large, hoofed mammals of the family EQUIDAE. Horses are active day and night with most of the day spent seeking and consuming food. Feeding peaks occur in the early morning and late afternoon, and there are several daily periods of rest.
Removal of plasma and replacement with various fluids, e.g., fresh frozen plasma, plasma protein fractions (PPF), albumin preparations, dextran solutions, saline. Used in treatment of autoimmune diseases, immune complex diseases, diseases of excess plasma factors, and other conditions.
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.
Any of the ruminant mammals with curved horns in the genus Ovis, family Bovidae. They possess lachrymal grooves and interdigital glands, which are absent in GOATS.
A class of Echinodermata characterized by long, slender bodies.
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.
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.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
ATP:pyruvate 2-O-phosphotransferase. A phosphotransferase that catalyzes reversibly the phosphorylation of pyruvate to phosphoenolpyruvate in the presence of ATP. It has four isozymes (L, R, M1, and M2). Deficiency of the enzyme results in hemolytic anemia. EC
Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.
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.
Infections with bacteria of the species ESCHERICHIA COLI.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
In utero transfusion of BLOOD into the FETUS for the treatment of FETAL DISEASES, such as fetal erythroblastosis (ERYTHROBLASTOSIS, FETAL).
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
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.
A verocytotoxin-producing serogroup belonging to the O subfamily of Escherichia coli which has been shown to cause severe food-borne disease. A strain from this serogroup, serotype H7, which produces SHIGA TOXINS, has been linked to human disease outbreaks resulting from contamination of foods by E. coli O157 from bovine origin.
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.
Organic and inorganic compounds that contain iron as an integral part of the molecule.
Forms of hepcidin, a cationic amphipathic peptide synthesized in the liver as a prepropeptide which is first processed into prohepcidin and then into the biologically active hepcidin forms, including in human the 20-, 22-, and 25-amino acid residue peptide forms. Hepcidin acts as a homeostatic regulators of iron metabolism and also possesses antimicrobial activity.
Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
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.
An aminoquinoline that is given by mouth to produce a radical cure and prevent relapse of vivax and ovale malarias following treatment with a blood schizontocide. It has also been used to prevent transmission of falciparum malaria by those returning to areas where there is a potential for re-introduction of malaria. Adverse effects include anemias and GI disturbances. (From Martindale, The Extra Pharmacopeia, 30th ed, p404)
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.
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.
Proteins prepared by recombinant DNA technology.
A glycoprotein that is central in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C3 can be cleaved into COMPLEMENT C3A and COMPLEMENT C3B, spontaneously at low level or by C3 CONVERTASE at high level. The smaller fragment C3a is an ANAPHYLATOXIN and mediator of local inflammatory process. The larger fragment C3b binds with C3 convertase to form C5 convertase.
A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane.
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 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.
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.
An infant during the first month after birth.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
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.
A toxin produced by certain pathogenic strains of ESCHERICHIA COLI such as ESCHERICHIA COLI O157. It shares 50-60% homology with SHIGA TOXIN and SHIGA TOXIN 1.
Disorders of the blood and blood forming tissues.
A plasma serine proteinase that cleaves the alpha-chains of C3b and C4b in the presence of the cofactors COMPLEMENT FACTOR H and C4-binding protein, respectively. It is a 66-kDa glycoprotein that converts C3b to inactivated C3b (iC3b) followed by the release of two fragments, C3c (150-kDa) and C3dg (41-kDa). It was formerly called KAF, C3bINF, or enzyme 3b inactivator.
A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)
C5 plays a central role in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C5 is cleaved by C5 CONVERTASE into COMPLEMENT C5A and COMPLEMENT C5B. The smaller fragment C5a is an ANAPHYLATOXIN and mediator of inflammatory process. The major fragment C5b binds to the membrane initiating the spontaneous assembly of the late complement components, C5-C9, into the MEMBRANE ATTACK COMPLEX.
A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.
An encapsulated lymphatic organ through which venous blood filters.
An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.
A toxin produced by certain pathogenic strains of ESCHERICHIA COLI such as ESCHERICHIA COLI O157. It is closely related to SHIGA TOXIN produced by SHIGELLA DYSENTERIAE.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), 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.
Complement activation initiated by the interaction of microbial ANTIGENS with COMPLEMENT C3B. When COMPLEMENT FACTOR B binds to the membrane-bound C3b, COMPLEMENT FACTOR D cleaves it to form alternative C3 CONVERTASE (C3BBB) which, stabilized by COMPLEMENT FACTOR P, is able to cleave multiple COMPLEMENT C3 to form alternative C5 CONVERTASE (C3BBB3B) leading to cleavage of COMPLEMENT C5 and the assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.
A genus in the family ORTHOMYXOVIRIDAE containing one species: Infectious salmon anemia virus.
Elements of limited time intervals, contributing to particular results or situations.
Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.
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)
Testing erythrocytes to determine presence or absence of blood-group antigens, testing of serum to determine the presence or absence of antibodies to these antigens, and selecting biocompatible blood by crossmatching samples from the donor against samples from the recipient. Crossmatching is performed prior to transfusion.
A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8)
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 antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.
Strains of ESCHERICHIA COLI with the ability to produce at least one or more of at least two antigenically distinct, usually bacteriophage-mediated cytotoxins: SHIGA TOXIN 1 and SHIGA TOXIN 2. These bacteria can cause severe disease in humans including bloody DIARRHEA and HEMOLYTIC UREMIC SYNDROME.
A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.
Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.
Proteins found in any species of bacterium.
A Fanconi anemia complementation group protein that interacts with FANCC PROTEIN and FANCD2 PROTEIN. It promotes the accumulation of FANCC protein in the CELL NUCLEUS.
A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B.
Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.
The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.
Plasmids controlling the synthesis of hemolysin by bacteria.
Antibodies from an individual that react with ISOANTIGENS of another individual of the same species.
The type species of ERYTHROVIRUS and the etiological agent of ERYTHEMA INFECTIOSUM, a disease most commonly seen in school-age children.
A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)
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.
Virus infections caused by the PARVOVIRIDAE.
Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.
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.
An individual in which both alleles at a given locus are identical.
The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.
An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
A cobalt-containing coordination compound produced by intestinal micro-organisms and found also in soil and water. Higher plants do not concentrate vitamin B 12 from the soil and so are a poor source of the substance as compared with animal tissues. INTRINSIC FACTOR is important for the assimilation of vitamin B 12.
Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)
A bile pigment that is a degradation product of HEME.
An alpha-2 adrenergic agonist that has both central and peripheral nervous system effects. Its primary clinical use is as an antihypertensive agent.
Endogenous proteins that inhibit or inactivate COMPLEMENT C3B. They include COMPLEMENT FACTOR H and COMPLEMENT FACTOR I (C3b/C4b inactivator). They cleave or promote the cleavage of C3b into inactive fragments, and thus are important in the down-regulation of COMPLEMENT ACTIVATION and its cytolytic sequence.
Venoms produced by FISHES, including SHARKS and sting rays, usually delivered by spines. They contain various substances, including very labile toxins that affect the HEART specifically and all MUSCLES generally.
Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).
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.
Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Sets of cell surface antigens located on BLOOD CELLS. They are usually membrane GLYCOPROTEINS or GLYCOLIPIDS that are antigenically distinguished by their carbohydrate moieties.
Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins.
Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.
The aggregation of ERYTHROCYTES by AGGLUTININS, including antibodies, lectins, and viral proteins (HEMAGGLUTINATION, VIRAL).
Basic polypeptide from the venom of the honey bee (Apis mellifera). It contains 26 amino acids, has cytolytic properties, causes contracture of muscle, releases histamine, and disrupts surface tension, probably due to lysis of cell and mitochondrial membranes.
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.
Serum containing GAMMA-GLOBULINS which are antibodies for lymphocyte ANTIGENS. It is used both as a test for HISTOCOMPATIBILITY and therapeutically in TRANSPLANTATION.
A genus of large SEA CUCUMBERS possessing the primitive radial configuration of podia in all five ambulacral areas.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)
Inorganic or organic compounds that contain divalent iron.
A subspecialty of internal medicine concerned with morphology, physiology, and pathology of the blood and blood-forming tissues.
An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.
The condition of being heterozygous for hemoglobin S.
Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available.
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.
Specific, characterizable, poisonous chemicals, often PROTEINS, with specific biological properties, including immunogenicity, produced by microbes, higher plants (PLANTS, TOXIC), or ANIMALS.
Substances that reduce the growth or reproduction of BACTERIA.
Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.
A genus of gram-positive, coccoid bacteria whose organisms occur in pairs or chains. No endospores are produced. Many species exist as commensals or parasites on man or animals with some being highly pathogenic. A few species are saprophytes and occur in the natural environment.
A genus of gram-negative, facultatively anaerobic, rod-shaped bacteria that occurs singly, in pairs, or in short chains. Its organisms are found in fresh water and sewage and are pathogenic to humans, frogs, and fish.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
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 phenylacetamide that was formerly used in ANALGESICS but nephropathy and METHEMOGLOBINEMIA led to its withdrawal from the market. (From Smith and Reynard, Textbook of Pharmacology,1991, p431)
A 150-kDa serum glycoprotein composed of three subunits with each encoded by a different gene (C8A; C8B; and C8G). This heterotrimer contains a disulfide-linked C8alpha-C8gamma heterodimer and a noncovalently associated C8beta chain. C8 is the next component to bind the C5-7 complex forming C5b-8 that binds COMPLEMENT C9 and acts as a catalyst in the polymerization of C9.
Malaria caused by PLASMODIUM FALCIPARUM. This is the severest form of malaria and is associated with the highest levels of parasites in the blood. This disease is characterized by irregularly recurring febrile paroxysms that in extreme cases occur with acute cerebral, renal, or gastrointestinal manifestations.
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)
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Volume of circulating ERYTHROCYTES . It is usually measured by RADIOISOTOPE DILUTION TECHNIQUE.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
Venoms from jellyfish; CORALS; SEA ANEMONES; etc. They contain hemo-, cardio-, dermo- , and neuro-toxic substances and probably ENZYMES. They include palytoxin, sarcophine, and anthopleurine.
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 glycoprotein secreted by the cells of the GASTRIC GLANDS that is required for the absorption of VITAMIN B 12 (cyanocobalamin). Deficiency of intrinsic factor leads to VITAMIN B 12 DEFICIENCY and ANEMIA, PERNICIOUS.
A ubiquitously expressed complement receptor that binds COMPLEMENT C3B and COMPLEMENT C4B and serves as a cofactor for their inactivation. CD46 also interacts with a wide variety of pathogens and mediates immune response.
The larger fragment generated from the cleavage of COMPLEMENT C3 by C3 CONVERTASE. It is a constituent of the ALTERNATIVE PATHWAY C3 CONVERTASE (C3bBb), and COMPLEMENT C5 CONVERTASES in both the classical (C4b2a3b) and the alternative (C3bBb3b) pathway. C3b participates in IMMUNE ADHERENCE REACTION and enhances PHAGOCYTOSIS. It can be inactivated (iC3b) or cleaved by various proteases to yield fragments such as COMPLEMENT C3C; COMPLEMENT C3D; C3e; C3f; and C3g.
Serum proteins that negatively regulate the cascade process of COMPLEMENT ACTIVATION. Uncontrolled complement activation and resulting cell lysis is potentially dangerous for the host. The complement system is tightly regulated by inactivators that accelerate the decay of intermediates and certain cell surface receptors.
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.

Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. (1/116)

To examine the relationship between erythrocyte membrane protein 7. 2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches. Immunoblots showed that homozygous knock-out mice completely lacked erythrocyte protein 7.2b. Despite the absence of protein 7.2b, there was no hemolytic anemia and mouse red blood cells (RBCs) were normal in morphology, cell indices, hydration status, monovalent cation content, and ability to translocate lipids. The absence of the phenotype of hereditary stomatocytosis implies that protein 7.2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC.  (+info)

Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). (2/116)

Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced lifespan in vivo but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis (hereditary xerocytosis). Physiological studies have shown that the passive leak to K has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells. We performed genetic mapping on the original family and found that the condition in this kindred maps to the same locus (16q23-ter) that we have previously identified for an Irish family with dehydrated hereditary stomatocytosis, which does not show the same temperature effects.  (+info)

Temperature effects on cation transport in hereditary stomatocytosis and allied disorders. (3/116)

The conditions known as 'hereditary stomatocytosis and allied syndromes' comprise a group of dominantly inherited human haemolytic anaemias characterized by a plasma membrane 'leak' to the univalent cations Na and K, an example of a small but growing group of diseases where pathology can be directly attributed to abnormal membrane transport. A number of case reports in the different variants have alluded to temperature-related phenomena, including loss of K on storage at room temperature (giving 'pseudohyperkalaemia') and lysis of cells when stored in the cold ('cryohydrocytosis'). This review collects together published studies of these temperature effects, which show very major differences in the 'leak' K transport. Two main variations on normal emerge: a 'shallow slope' type, in which the flux shows an abnormally low dependence on temperature in the range 37-20 degrees C, and 'high minimum', in which the minimum in this flux, which occurs in normal cells at 8 degrees C, is shifted up to 23 degrees C. These temperature studies provide a powerful method for phenotypic characterization.  (+info)

The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. (4/116)

Antigens of the Rh blood group system are encoded by 2 homologous genes, RHD and RHCE, that produce 2 red cell membrane proteins. The D-negative phenotype is considered to result, almost invariably, from homozygosity for a complete deletion of RHD. The basis of all PCR tests for predicting fetal D phenotype from DNA obtained from amniocytes or maternal plasma is detection of the presence of RHD. These tests are used in order to ascertain the risk of hemolytic disease of the newborn. We have identified an RHD pseudogene (RHD psi) in Rh D-negative Africans. RHDpsi contains a 37 base pair (bp) insert in exon 4, which may introduce a stop codon at position 210. The insert is a sequence duplication across the boundary of intron 3 and exon 4. RHDpsi contains another stop codon in exon 6. The frequency of RHDpsi in black South Africans is approximately 0.0714. Of 82 D-negative black Africans, 66% had RHDpsi, 15% had the RHD-CE-D hybrid gene associated with the VS+ V- phenotype, and only 18% completely lacked RHD. RHDpsi is present in about 24% of D-negative African Americans and 17% of D-negative South Africans of mixed race. No RHD transcript could be detected in D-negative individuals with RHDpsi, probably as a result of nonsense-mediated mRNA decay. Existing PCR-based methods for predicting D phenotype from DNA are not suitable for testing Africans or any population containing a substantial proportion of people with African ethnicity. Consequently, we have developed a new test that detects the 37 bp insert in exon 4 of RHDpsi. (Blood. 2000; 95:12-18)  (+info)

Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules. (5/116)

In a Hungarian family with triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate keto-isomerase, EC deficiency, two germ-line identical, but phenotypically differing compound heterozygote brothers (one of them with neurological disorder) have been identified with the same very low (<5%) TPI activity and 20- or 40-fold higher erythrocyte dihydroxyacetone phosphate levels as compared with normal controls. Our present studies with purified TPI and hemolysates revealed the binding of TPI, and the binding of human wild-type and mutant TPIs in hemolysate, to the red cell membrane, and the interference of binding with other hemolysate proteins. The binding of the mutant TPI is enhanced as compared with the wild-type enzyme. The increased binding is influenced by both the altered structure of the mutant and the changes in the red cell membrane. Compared with binding of glyceraldehyde-3-phosphate dehydrogenase, the isomerase binding is much less sensitive to ionic strength or blocking of the N-terminal tail of the band-3 transmembrane protein. The binding of TPIs to the membrane decreases the isomerase activity, resulting in extremely high dihydroxyacetone phosphate levels in deficient cells. In cell-free brain extract, tubulin copolymerizes with TPI and with other cytosolic proteins forming highly decorated microtubules as shown by immunoblot analysis with anti-TPI antibody and by electron microscopic images. The efficacy order of TPI binding to microtubules is propositus > brother without neurological disorder > normal control. This distinct microcompartmentation of mutant proteins may be relevant in the development of the neurodegenerative process in TPI deficiency and in other, more common neurological diseases.  (+info)

Survival of donor cells 25 years after intrauterine transfusion. (6/116)

Persistence of donor leukocytes in the circulation of recipients of intrauterine transfusion (IUT) has been observed up to 5 years after birth. The aim of this study was to determine whether transfusions with nonirradiated, nonleukocyte-depleted donor blood during the fetal period resulted in long-term immunomodulation of the recipient. Twenty-four surviving IUT recipients between 1966 and 1976 were tested for autoimmune disease and autoantibodies at follow-up. Ten had sex-mismatched donors and were therefore informative for chimerism studies using fluorescence in situ hybridization (FISH). Seven female recipients could be tested for chimerism using a Y- chromosome-specific polymerase chain reaction (PCR) because they received at least 1 IUT from a male donor. Nine recipients could be studied for cytotoxic T-lymphocyte precursor (CTLp) and helper T-lymphocyte precursor (HTLp) frequencies because the original donors were available for testing. All surviving IUT recipients were in good health at the time of the examination, and routine laboratory testing revealed no abnormalities. None of the IUT recipients were chimeric as determined by FISH analysis, but Y-chromosome-specific sequences were detected by PCR in 6 of the 7 women. However, the CTLp and HTLp frequencies of the IUT recipients against the donors were comparable to those of the controls. The current study provides evidence that IUT can result in the persistence of donor cells in the recipient for a period longer than 20 years but that it is not associated with immunotolerance or with signs of chronic antigenic stimulation. (Blood. 2000;95:2709-2714)  (+info)

Stomatin, flotillin-1, and flotillin-2 are major integral proteins of erythrocyte lipid rafts. (7/116)

Lipid rafts are sphingolipid- and cholesterol-rich membrane microdomains that are insoluble in nonionic detergents, have a low buoyant density, and preferentially contain lipid-modified proteins, like glycosyl phosphatidylinositol (GPI)-anchored proteins. The lipid rafts were isolated from human erythrocytes and major protein components were identified. Apart from the GPI-anchored proteins, the most abundant integral proteins were found to be the distantly related membrane proteins stomatin (band 7.2b), flotillin-1, and flotillin-2. Flotillins, already described as lipid raft components in neurons and caveolae-associated proteins in A498 kidney cells, have not been recognized as red cell components yet. In addition, it was shown that the major cytoskeletal proteins, spectrin, actin, band 4.1, and band 4.2, are partly associated with the lipid rafts. Stomatin and the flotillins are present as independently organized high-order oligomers, suggesting that these complexes act as separate scaffolding components at the cytoplasmic face of erythrocyte lipid rafts.  (+info)

Post-transcriptional effects of interleukin-3, interferon-gamma, erythropoietin and butyrate on in vitro hemoglobin chain synthesis in congenital hemolytic anemia. (8/116)

BACKGROUND AND OBJECTIVES: Various agents modulate hemoglobin synthesis. In vitro modulation of translation in hemoglobin chain synthesis was analysed in patients with congenital hemolytic anemia (n=32) and healthy controls (n=17). DESIGN AND METHODS: Enriched reticulocytes were co-incubated with (3)H-leucine and cytokines or butyrate. Reversed-phase chromatography enabled separation of alpha-, beta- and gamma-globin chains. Globin chain synthesis was calculated from measured (3)H-leucine incorporation. Transferrin, erythropoietin, interleukin-3 and interferon-gamma receptors were detected by flow cytometry. Reverse-transcription polymerase chain reaction (RT PCR) was used to demonstrate changes of RNA stability. RESULTS AND DISCUSSION: Interleukin-3, interferon-gamma and butyrate caused a significant 2-fold increase (range 1.8-2.4; p<0.01) of the alpha- and beta-chain synthesis in congenital hemolytic anaemias. Analysis of gamma-globin chain synthesis revealed a lower, i.e. 1.4 fold increase (range 1.32 to 1.41; p<0.03). The absolute amount of globin synthesis was calculated to be 2.9 x 10(-12) g/reticulocyte/24h. After incubation with interleukin-3 the absolute additional synthesis of the alpha-globin chain reached 1.31 x 10(-12) g/reticulocyte/24h, of the beta-globin chain, 1.15 x 10(-12) g/reticulocyte/24h and of the gamma-globin chain, 0.26 x 10(-12) g/reticulocyte/24h. Butyrate and interferon-gamma had no or even an inhibiting effect on reticulocytes from normal controls, while interleukin-3 stimulated alpha- and gamma-chain synthesis (1.4 and 2.4 fold, respectively; p<0.03) suggesting an increase of fetal hemoglobin (HbF). Erythropoietin showed no stimulating influence. Membrane associated interleukin-3 receptors were detected in 0.78+/-0.14%, and interferon-gamma receptors in 0.1+/-0.015% of the red cells. Erythropoietin receptors were extremely rare (0.05+/-0.015%). The expression of transferrin receptors (CD71) correlated with the extent of globin chain stimulation. The alpha-, and beta-globin mRNA content of the reticulocytes after interleukin-3 incubation, as measured by RT-PCR, increased. INTERPRETATION AND CONCLUSIONS: Hemoglobin chain synthesis could be modulated post-transcriptionally by interleukin-3, interferon-gamma and butyrate. Transferrin receptor and globin RNA stability might be involved in this phenomenon.  (+info)

TY - JOUR. T1 - Clinical and Hematologic Benefits of Partial Splenectomy for Congenital Hemolytic Anemias in Children. AU - Rice, Henry E.. AU - Oldham, Keith T.. AU - Hillery, Cheryl A.. AU - Skinner, Michael A.. AU - OHara, Sara M.. AU - Ware, Russell E.. PY - 2003/2. Y1 - 2003/2. N2 - Objective: To assess the role of partial splenectomy for symptomatic children with various congenital hemolytic anemias. Summary Background Data: The use of total splenectomy for symptomatic children with congenital hemolytic anemias is restricted by concern of postsplenectomy sepsis. A partial splenectomy is an alternative procedure, although its utility remains incompletely defined. Methods: This longitudinal cohort study followed 25 symptomatic children with various congenital anemias who underwent partial splenectomy. Sixteen children had hereditary spherocytosis (HS), and nine children had other erythrocyte disorders. Outcome measures were clinical and laboratory hemolysis, splenic phagocytic and immune ...
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia., Brian R Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M Heeney, C Jason Smithers, Rebeccah L Brown, Theodosia Kalfa, Jacob C Langer, Michaela Cada, Keith T Oldham, J Paul Scott, Mukta Sharma, Andrew M Davidoff, Kerri Nottage, Kathryn Bernabe, David B Wilson, Sanjeev Dutta, Bertil Glader, Shelley E Crary, Melvin S Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Henry E Rice, Splenectomy in Congenital Hemolytic Anemia Consortium, and Shawn D. St Peter. ...
Definition : Molecular assay reagents intended to identify mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene, located at chromosome Xq28, which encodes for the glucose-6-phosphate dehydrogenase enzyme. Mutations at this locus have been identified in patients with congenital hemolytic anemia caused by G6PD deficiency.. Entry Terms : Anemia Gene Mutation Detection Reagents , Hemolytic Anemia Gene Mutation Detection Reagents , Congenital Hemolytic Anemia Gene Mutation Detection Reagents , G6PD Gene Mutation Detection Reagents , Reagents, Molecular Assay, Gene Anomaly, Mutation, G6PD. UMDC code : 24435 ...
How is R-type pyruvate kinase abbreviated? R-PK stands for R-type pyruvate kinase. R-PK is defined as R-type pyruvate kinase rarely.
Hereditary hemolytic anemia, a dominantly transmitted disorder, has affected 12 family members spanning three generations. The concentration of adenosine triphosphate in the red cells was about half that of comparably reticulocyte-rich blood. Since adenosine deaminase and adenosine kinase compete for a common substrate, the greatly increased activity of the former may interfere with nucleotide salvage via the latter. ...
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole-exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified numerous mutations in erythrocyte membrane α-spectrin (SPTA1). Twenty-eight mutations were novel, with null alleles frequently found in trans to missense mutations. No mutations were identified in a third of SPTA1 alleles (17/48). WGS revealed linkage disequilibrium between the common rHS-linked αBH polymorphism and a rare intron 30 variant in all 17 mutation-negative alleles. In vitro minigene studies and in vivo splicing analyses revealed the intron 30 variant changes a weak alternate branch point (BP) to a strong BP. This change leads to increased utilization of an alternate 3′ splice acceptor site, perturbing normal α-spectrin mRNA splicing and creating an elongated mRNA transcript. In vivo mRNA stability studies revealed the newly ...
The classic laboratory finding of hemolysis is anemia with an elevated reticulocyte count. The reticulocytosis reflects normal bone marrow function and occurs in response to the premature RBC destruction; reticulocytes are larger than older erythrocytes and have a blue-purple color known as polychromasia (Fig. 433-1). Reticulocytosis generally occurs 3 to 5 days after a sudden drop in hemoglobin concentration but is relatively constant in children with congenital hemolytic anemia. Making the diagnosis of hemolytic anemia begins with recognizing the constellation of signs and symptoms, then obtaining a complete blood count with reticulocyte count, and finally examining the peripheral blood smear. Additional laboratory findings supporting the diagnosis of hemolysis include elevated total serum bilirubin and lactate dehydrogenase (LDH; LDH being released from RBCs during hemolysis). Intravascular hemolysis also causes decreased or undetectable levels of haptoglobin, but this test is not specific so ...
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Purpose: The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD). Methods: The Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium registry collected hematologic outcomes of children with CHA undergoing TS or PS to 1 year after surgery. Using random effects mixed modeling, we evaluated the association of operative type with change in hemoglobin, reticulocyte counts, and bilirubin. We also compared laparoscopic to open splenectomy. Results: The analysis included 130 children, with 62.3% (n = 81) undergoing TS. For children with HS, all hematologic measures improved after TS, including a 4.1 g/dl increase in hemoglobin. Hematologic parameters also improved after PS, although the response was less robust (hemoglobin increase 2.4 g/dl, p , 0.001). For children with SCD, there was no change in hemoglobin. Laparoscopy was not associated with differences ...
The first chapter, by Dr. Dzik, is a real treat to read. Of special note is his critical analysis of the three common assumptions: (1) Abnormal results of commonly used laboratory tests such as prothrombin time, activated partial thromboplastin time, or platelet count have predictive value to identify which patients to treat; (2) blood components administered before procedures effectively correct hemostatic abnormalities; and (3) prophylactic transfusions preprocedure are of greater benefit than therapeutic transfusions after the procedure. The rest of the chapters in the first section provide a comprehensive overview of transfusion practices in common clinical conditions such as autoimmune hemolytic anemia, congenital hemolytic anemia, acquired hemolytic anemia, congenital coagulopathies, solid organ transplantation, hematopoietic stem cell transplantation, therapeutic apheresis, and the pediatric population. Although each of the distinguished authors adds his or her own flavor to the chapters, ...
An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA ...
A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
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 ...
Inherited in a dominant and recessive manner. And each of these options is characterized by the presence of fetal hemoglobin. The most severe disease is considered to be a big thalassemia, which is expressed already in the neonatal period and ending fatally. Asymptomatic forms are due to the presence of HbA, HbF, and others formed early appearance of the child: tower skull, wide-set eyes, broad flat nose. There is an increase in the abdomen as a result of increased parenchymal organs, primarily the spleen ...
Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia:-Clinical and Biochemical Studies- (1981 ...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015 ...
www.precisionpiezo.co.uk are pleased to announce the beta/early bird version of the Piezo20 hotend z-probe. SEE IT WORKING HERE Youve probably seen the extensive work on piezo electric sensing here on the forum. Weve made a unit which is ready to use with your groovemount hotend. The sensor modul
www.precisionpiezo.co.uk are pleased to announce the beta/early bird version of the Piezo20 hotend z-probe. SEE IT WORKING HERE Youve probably seen the extensive work on piezo electric sensing here on the forum. Weve made a unit which is ready to use with your groovemount hotend. The sensor modul
PIs integrated piezo actuators allow dynamic operation and feature a sub-millisecond response time and sub-nanometer resolution.
Thorlabs offers motorized rotation stages and rotation mounts suitable for a range of applications. Our motorized rotation mounts / stages are equipped with stepper, direct drive, piezo inertia, DC servo, or piezo resonant motors and include a variety of features for mounting to optical tables, breadboards, or optical posts. In addition, some stages and mounts are also 16 mm and 30 mm cage system compatible.
In a parallel-kinematic, multi-axis system, all actuators act directly on a single moving platform. This means that all axes can be designed with identical dynamic properties, thus reducing the moved mass considerably. Hexapods are used for moving and precision positioning, aligning and displacing loads in all six degrees of freedom, i.e., three linear and three rotational axes ...
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The Online Mendelian Inheritance in Man (OMIM) compendium of human genes and genetic phenotypes includes three types of congenital dyserythropoietic anemia as reported in Table 1. A comprehensive overview of these disorders has been published recently.1. Congenital dyserythropoietic anemia type II is the most common of these inherited disorders. Typical morphological abnormalities of this condition are shown in Figure 1: these abnormalities clearly indicate that incomplete cytokinesis is one of the key features of erythroid cells in this condition.. More than 30 years ago, we investigated the pathophysiology of anemia in patients with congenital dyserythropoietic anemia type II in studies of iron kinetics.2 A wide variation in effectiveness of erythroid activity was observed, and a significant inverse relationship was found between ineffective erythropoiesis and peripheral hemolysis. In 4 patients with prominent peripheral hemolysis, splenectomy was carried out. Marked improvement in their ...
Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS) is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test. CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated. An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and band 4.5 glycoproteins. The polylactosamines are, however, accumulated ...
TY - JOUR. T1 - Congenital dyserythropoietic anaemia type II (CDA‐II). T2 - chromosomal banding studies and adherent cell effects on erythroid colony (CFU‐E) and burst (BFU‐E) formation. AU - Roodman, G. D.. AU - Clare, C. N.. AU - Mills, G.. PY - 1982/3. Y1 - 1982/3. N2 - Bone marrow CFU‐E and BFU‐E from a patient with CDA‐II formed erythroid colonies and bursts which contained multinucleated erythroblasts in vitro. Adherent cell depletion of the patients marrow increased CFU‐E derived colonies six‐fold (98 ± 17 v. 640 ± 15 per 105 marrow cells plated) and co‐culture of CDA‐II marrow adherent cells with CDA‐II adherent cell depleted marrow significantly suppressed erythroid colony formation. Similar adherent cell suppression of the patients BFU‐E also occurred. Adherent cell depletion of normal marrow did not increase CFU‐E derived colony formation (488 ± 63 v. 495 ± 108) and decreased BFU‐E derived burst formation. Addition of normal adherent cells to normal ...
TY - JOUR. T1 - Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 [8]. AU - Perrotta, Silverio. AU - Luzzatto, Lucio. AU - Carella, Massimo. AU - Iolascon, Achille. PY - 2003/10/1. Y1 - 2003/10/1. UR - http://www.scopus.com/inward/record.url?scp=0141705291&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0141705291&partnerID=8YFLogxK. U2 - 10.1182/blood-2003-07-2389. DO - 10.1182/blood-2003-07-2389. M3 - Article. C2 - 14504075. AN - SCOPUS:0141705291. VL - 102. SP - 2704. EP - 2705. JO - Blood. JF - Blood. SN - 0006-4971. IS - 7. ER - ...
The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately 20% of cases, suggesting the presence of at least one other locus. We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T|A), predicted to lead to a p.L178Q missense substitution in C15ORF41, a gene of unknown function, in a consanguineous pedigree of Middle-Eastern origin. Sequencing C15ORF41 in other CDAN1 mutation-negative congenital dyserythropoietic anemia type I pedigrees identified a homozygous transition (c.281A|G), predicted to lead to a p.Y94C substitution, in two further pedigrees of SouthEast Asian origin. The haplotype surrounding
The non-spherocytic hemolytic anemias comprise a seemingly diverse group of diseases intrinsic to the red cell when they are contrasted with the better known congenital hemolytic anemias, such as hereditary spherocytosis. Knowledge of their inheritance, course, and pathogenesis is incomplete. Since initially defined by Dacie (1) in 1953 as atypical congenital hemolytic anemia the general characteristics of this syndrome have been outlined (2, 3): [1] although hereditary, the anemia affects siblings rather than parents within a family; [2] the erythrocytes tend to be macrocytic, and spherocytes are absent; [3] the osmotic fragility of fresh native blood is not increased; [4] ...
BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic ...
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. The symptoms and signs of congenital dyserythropoietic anemia are consistent with: Tiredness (fatigue) Weakness Pale skin CDA may be transmitted by both parents autosomal recessively or dominantly and has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV . CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. More than 300 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the ...
Hereditary Spherocytosis: A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. To determine whether growth differentation factor 15 (GDF15) hyper-expression is associated with the ineffective erythropoiesis and iron-loading complications of CDA type I (CDA I), GDF15 levels and other markers of erythropoiesis and iron overload were studied in blood from 17 CDA I patients. Significantly higher levels of GDF15 were detected among the CDA I patients (10 239 +/- 3049 pg/mL) compared with healthy volunteers (269 +/- 238 pg/mL). In addition, GDF15 correlated significantly with several erythropoietic and iron parameters including Hepcidin-25, Ferritin, and Hepcidin-25/Ferritin ratios. These novel results suggest that CDA I patients express very high levels of serum GDF15, and that GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis ...
TY - JOUR. T1 - Ultrastructural, cell culture and karyotype study of bone marrow in a patient with congenital dyserythropoietic anaemia (CDA)-type III presenting with recurrent still-births. AU - Ghosh, Kanjaksha. AU - Yavagal, Dilip. AU - Phillips, Callista. AU - Jijina, Farah. AU - Pathare, A. V.. AU - Kerketta, Lily. AU - Iyer, Y. S.. AU - Nair, C. N.. AU - Shinde, S.. AU - Mohanty, Dipika. PY - 1998. Y1 - 1998. N2 - A 28 year old female patient presented with refractory anaemia since childhood and recurrent still-births at 28-30 weeks of gestation. One still-born child was hydropic at birth. Bone marrow showed characteristic morphological changes of congenital dyserythropoietic anaemia (CDA)-Type III. Electron microscopy showed disruption of the nuclear membrane, spongy appearance of nuclei, stacks of microtubules in intermediate normoblasts and myelin figures in erythroid cells. In vitro culture and karyotype data from the bone marrow of the patient is presented. Recurrent still-births in ...
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Looking for online definition of stomatocytosis in the Medical Dictionary? stomatocytosis explanation free. What is stomatocytosis? Meaning of stomatocytosis medical term. What does stomatocytosis mean?
The clinical and haematological features of an unusual case of congenital dyserythropoietic anaemia are described. There was a pronounced haemolytic component to the anaemia, with a mean cell life of five days, and a remarkable response to splenectomy. Measurement of the incorporation of 15N glycine into the haem of circulating red cells and into bilirubin showed that haem turnover due to ineffective erythropoiesis was increased 45 times compared with a control group (11.63 mg/kg/day, NR = 0.26 + 0-10) and represented 51% of total erythroid haem turnover.. ...
Nail Hypoplasia, Polychromasia in Peripheral Blood Smear, Sinus Opacification Symptom Checker: Possible causes include Congenital Dyserythropoietic Anemia Type 1, Chronic Sinusitis, Congenital Dyserythropoietic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The sickle cell anemia (SCA) is a hereditary hemolytic anemia. The polymerization of hemoglobin S (HbS) in the deoxygenated state in sickle cell disease (SCD) is the watershed event leading to vase- occlusion, factors that retard the transit time of sickle erythrocytes in the microcirculation and the cell s adhesive properties. The change in shape is responsible for the enhancing of adhesion in endothelial cells and vase occlusion impeding the blood flux to tissues (1) .The vascular occlusion is the result of a fall in oxygen tension in cells presenting a major density (2). The researches in electronic microscopy had been shown that the irreversible sickle cells does not have almost anything of polymerized hemoglobin and so still retains the sickle shape. The sickle shape occurs because the protein fixation in membrane cytoskeleton and they must not be responsible for the irreversibility shape of sickle cell. (3). these processes are dependent of sickle hemoglobin concentration. Thus, the ...
Knowledge of RBC membrane structure is important because defects in its structure underlie multiple IHAs [16]. The human RBC membrane consists of three basic components: a lipid bilayer, transmembrane linker proteins, and a two-dimensional spectrin-based cytoskeleton network [171819]. Connections of the two layers depend on different linker proteins with binding sites, respectively, for the cytoplasmic domains of the integral membrane proteins (band 3 and glycophorin C) embedded in the lipid bilayer and specific regions of spectrin proteins in the cytoskeleton (Fig. 1). RBC membranopathies are the result of qualitative abnormalities or quantitative deficiencies of the RBC cytoskeletal proteins and can be divided into those resulting from structural protein loss including HS, hereditary elliptocytosis (HE) and hereditary ovalocytosis and membrane transport dysfunction (hereditary stomatocytosis) (Fig. 2) [1620]. Defects that interrupt the vertical structure (spectrin-actin interaction) underlie ...
cdna: chromosome:VEGA66:2:120716522:120731518:-1 gene:OTTMUSG00000015621 gene_biotype:protein_coding transcript_biotype:protein_coding gene_symbol:Cdan1 description:congenital dyserythropoietic anemia type I (human ...
Dyserythropoietic anemia is a condition that influences platelets and principally observed in males. Dyserythropoietic anemia is one of numerous sorts of i..
Ion channels are transmembrane proteins that allow ions to move in or out of cells, and they are vital to a range of biological processes. They can be opened and closed in a number of ways: for example, some are opened by voltage, while others respond to the binding of ligands. Piezo1 and Piezo2 are mechanosensitive ion channels: in other words, they open in response to mechanical stimulation, such as stretching or shear stress (Coste et al., 2010, 2012).. Mutations in the gene Piezo1 have been linked to a blood disease called xerocytosis that leads to hemolytic anemia (Albuisson et al., 2013; Bae et al., 2013; Coste et al., 2013; Zarychanski et al., 2013). It is known that these mutations reduce the ability of the Piezo1 ion channel to close, and this leads to red blood cells shrinking as a result of dehydration. However, the details of this process are not fully understood. Now, in a pair of papers in eLife, Ardem Patapoutian, Michael Bandell and colleagues at the Scripps Research Institute, ...
Learn about the causes, symptoms, diagnosis & treatment of Anemias Caused by Hemolysis from the Professional Version of the Merck Manuals.
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Anemia. *Placental hemorrhage. *Severe hemolytic disease. *Sepsis[7]. Pathophysiology[edit]. The exact pathologic mechanism for ... Congenital heart disease. *Fetal-maternal transfusion. *Dehydration. *Perinatal asphyxia. * ...
CDAN1 Anemia, dyserythropoietic congenital, type II; 224100; SEC23B Anemia, hemolytic, due to UMPH1 deficiency; 266120; NT5C3 ... SLC40A1 Hemolytic anemia due to adenylate kinase deficiency; 612631; AK1 Hemolytic anemia due to gamma-glutamylcysteine ... GCLC Hemolytic anemia due to glutathione synthetase deficiency; 231900; GSS Hemolytic anemia due to hexokinase deficiency; ... Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG Anemia, hypochromic microcytic; 206100; NRAMP2 Anemia, sideroblastic, ...
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]". Harefuah. 126 (12): 699-702, 764, 763 ... A study about sickle cell anemia in Arabs article about Birth defects 6Glucose Phisphate isomere deficiency responsible for ... Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ...
1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a ... The cell lyses and a haemolytic anaemia results. For as yet unknown reasons, the cells take on the shape of a cup, with a ' ... Many patients with haemolytic anaemia take folic acid (vitamin B9) since the greater turnover of cells consumes this vitamin. ... hereditary hyperphosphatidylcholine haemolytic anaemia) Dehydrated with perinatal ascites Cryohydrocytosis 'Blackburn' variant ...
Ham's test is occasionally positive in aplastic anemia. Ham, Thomas H. (1937). "Chronic Hemolytic Anemia with Paroxysmal ... indicates PNH or congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ...
ISBN 9780781770231.[page needed] Seip, M (1999). "Pyrimidine-5'-nucleotidase deficiency--congenital hemolytic anemia with ... Severe megaloblastic anemia Hemolytic anemia Sickle-cell anemia Pyrimidine 5' nucleotidase deficiency Alcoholism ... Myelodysplastic syndromes Sideroblastic anemia Congenital dyserythropoietic anemia Primary myelofibrosis Leukemia ...
"A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane". Br J Haematol. 29 (4): 537-43. doi: ... Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity ... Patients with HPP tend to experience severe hemolysis and anemia in infancy that gradually improves, evolving toward typical ...
It may be seen in association with thrombocytopenia, anemia, purpura and kidney failure. The classic TMAs are hemolytic uremic ... congenital, idiopathic, and non-idiopathic. Congenital and idiopathic TTP are generally associated with deficiencies in ... The clinical presentation of TMA, although dependent on the type, typically includes: fever, microangiopathic hemolytic anemia ... Microangiopathy Microangiopathic hemolytic anemia Benz, K.; Amann, K. (May 2010). "Thrombotic microangiopathy: new insights". ...
Hematology: acquired (autoimmune) hemolytic anemia, idiopathic thrombocytopenic purpura, secondary thrombocytopenia, ... erythroblastopenia, leukemia, lymphoma and congenital (erythroid) hypoplastic anemia. Pulmonary: aspiration pneumonitis, ... Endocrinology: congenital adrenal hyperplasia, hypercalcemia associated with cancer, nonsuppurative thyroiditis, and primary or ...
... s are those occurring with sickle cell anemia, congenital hemolytic anemia, polycythemia vera, ...
... of the coagulation system and fibrinolytic activity of the blood in patients with congenital microspherocytic hemolytic anemia ... of the coagulation system and fibirinolytic activity of the blood in patients with congenital microspherical hemolytic anemia ...
His name is associated with the following disorders: "Minkowski-Chauffard disease": Congenital hemolytic anemia with ... with F. Ramon) Pathogénie de l'ictère congénital de l'adulte. La semaine médicale, Paris, 1907, 27: 25-29. Les ictères ... Pathogénie de l'ictere hémolytique congénital. Annales de médecine interne, Paris, 1914: 1-17. Anatole Chauffard @ Who Named It ...
The complications are polyhydramnios, preterm labour, hemolytic anemia, fetal cardiomegaly, fetal thrombocytopenia, ... intrauterine growth retardation, preeclampsia, abruption of placenta and congenital anomalies. The origin of chorioangioma is ...
Typically diagnosed at birth, congenital nonspherocytic hemolytic anemia is characterised by premature destruction of red blood ... Beutler E, Scott S, Bishop A, Margolis F, Mastsumoto F, Kuhl W (1973). "Red Cell Aldolase Deficiency and Hemolytic Anemia: A ... Takasaki Y, Takahashi I, Mukai T, Hori K (1990). "Human Aldolase A of a Hemolytic Anemia Patient with Asp-128→Gly Substitution ... Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BJ, Geva A (2004). "Hemolytic anemia and severe rhabdomyolysis caused by ...
Hemolytic anemia also is known to occur.[citation needed] Progressive Retinal Atrophy (PRA) is also present in the breed. The ... Inbreeding due to the small foundation stock numbers has led to Entlebuchers suffering from congenital defects, the most common ...
Thalassemia and its resultant hemolytic anemia is another important cause of pathologic EMH. EMH has been observed in numerous ... other benign hematological disorders such as sickle cell anemia, hereditary spherocytosis, congenital dyserythroblastic anemia ...
... these patients likely present with additional abnormalities including hemolytic anemia, hepatosplenomegaly, and neutropenia. An ... These distinctive neurologic features are suggestive of hypomyelination, as they resemble features of other congenital disorder ...
Howell-Jolly bodies are also seen in amyloidosis, severe hemolytic anemia, megaloblastic anemia, hereditary spherocytosis, and ... Common causes include asplenia (post-splenectomy) or congenital absence of spleen (heterotaxy syndrome with asplenia). Spleens ... and autosplenectomy caused by sickle cell anemia. Other causes are radiation therapy involving the spleen, such as that used to ...
Non-immune hydrops can also be unrelated to anemia, for example if a fetal tumor or congenital cystic adenomatoid malformation ... Erythroblastosis fetalis, also known as Rh disease, is a hemolytic disease of newborns. Pregnant mothers do not always have the ... Cytomegalovirus in mother Congenital pulmonary airway malformation (formerly called congenital cystic adenomatoid malformation ... Therapy for Fetal anemia caused by a parvovirus infection or fetomaternal hemorrhage is fetal blood sampling followed by ...
Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic- ... congenital Hillig syndrome Hing-Torack-Dowston syndrome Hinson-Pepys disease Hip dislocation Hip dysplasia Beukes type Hip ... Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ... neuropathy type I Hereditary sensory neuropathy type II Hereditary spastic paraplegia Hereditary spherocytic hemolytic anemia ...
One such condition is hemolytic disease of the newborn (erythroblastosis fetalis). Thalassemia and sickle cell anemia may be ... Congenital erythropoietic porphyria (Gunther disease) is a rare congenital form of porphyria, and may be associated with red or ...
... if severe hemolytic anemia develops The spread of gastric cancer to splenic tissue When using the splenic artery for kidney ... For long-term treatment of congenital pyruvate kinase (PK) deficiency Those who have a severe version of the hereditary blood ... When the spleen bleeds following physical trauma Following spontaneous rupture For long-term treatment of congenital ... Irwin JJ, Kirchner JT (October 2001). "Anemia in children". American Family Physician. 64 (8): 1379-86. PMID 11681780. ...
Congenital hemolytic anemia Congenital hepatic fibrosis Congenital hepatic porphyria Congenital herpes simplex Congenital ... Congenital skeletal disorder Congenital skin disorder Congenital spherocytic anemia Congenital spherocytic hemolytic anemia ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ... Congenital v Congenital toxoplasmosis Congenital unilateral pulmonary hypoplasia Congenital vagal hyperreflexivity Congenital ...
... congenital MeSH C16.320.070.100 - anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 - anemia, sickle cell MeSH ... anemia, Diamond-Blackfan MeSH C16.320.077.280 - fanconi anemia MeSH C16.320.099.037 - activated protein C resistance MeSH ... congenital MeSH C16.131.621.551 - Klippel-Feil syndrome MeSH C16.131.621.585 - limb deformities, congenital MeSH C16.131. ... congenital MeSH C16.131.621.585.512 - lower extremity deformities, congenital MeSH C16.131.621.585.600 - polydactyly MeSH ...
... anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 - anemia, hemolytic, congenital MeSH C15.378. - anemia, ... anemia, hemolytic, congenital nonspherocytic MeSH C15.378. - anemia, sickle cell MeSH C15.378. ... anemia, diamond-blackfan MeSH C15.378. - fanconi anemia MeSH C15.378.071.141 - anemia, hemolytic MeSH C15.378. ... anemia, aplastic MeSH C15.378.190.196.080 - anemia, hypoplastic, congenital MeSH C15.378. - anemia, diamond- ...
... chronic hemolytic anemia (including sickle cell disease) Systemic diseases: sarcoidosis, pulmonary Langerhans cell ... Valvular heart disease Congenital/acquired left heart inflow/outflow tract obstruction and congenital cardiomyopathy Congenital ... Echocardiography can also help to detect congenital heart disease as a cause of pulmonary hypertension. Play media 4 month old ... Diller GP, Gatzoulis MA (February 2007). "Pulmonary vascular disease in adults with congenital heart disease". Circulation. 115 ...
Aplastic anemia Transfusion associated Pseudothrombocytopenia idiopathic thrombocytopenic purpura Gilbert's syndrome Congenital ... thrombocytopenia Chemotherapy Babesiosis Dengue fever Onyalai Thrombotic thrombocytopenic purpura HELLP syndrome Hemolytic- ... Elevated platelet concentration is called thrombocytosis, and is either congenital, reactive (to cytokines), or due to ... acquired or congenital Disorders of aggregation Glanzmann's thrombasthenia Wiskott-Aldrich syndrome Acquired Disorders of ...
Iron-deficiency anemia Megaloblastic anemia Vitamin B12 deficiency Pernicious anemia Folate deficiency Hemolytic anemias ( ... Genetic disorders of RBC membrane Hereditary spherocytosis Hereditary elliptocytosis Congenital dyserythropoietic anemia ... Infectious mononucleosis Alloimmune hemolytic anemia Hemolytic disease of the newborn (HDN) Rh disease (Rh D) ABO hemolytic ... Autoimmune hemolytic anemia Warm antibody autoimmune hemolytic anemia Idiopathic Systemic lupus erythematosus (SLE) Evans ...
Gastroenterology Ulcerative colitis Crohn's disease Autoimmune hepatitis Hematology Lymphoma Leukemia Hemolytic anemia ... Hydrocortisone (cortisol) is typically used for replacement therapy, e.g. for adrenal insufficiency and congenital adrenal ... Addison's disease Adrenal insufficiency Congenital adrenal hyperplasia ...
... under changing osmotic stress or oxygen tension and is used in the diagnosis and follow up of congenital hemolytic anemias. ...
Blau syndrome Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome) DIRA ( ... haemolytic-uraemic syndrome, membranoproliferative glomerulonephritis) Factor D deficiency (Neisserial infections) Properdin ... Severe Congenital Neutropenia: due to ELA2 deficiency (with myelodysplasia) Severe Congenital Neutropenia: due to GFI1 ...
This variant causes a mild chronic hemolytic anemia.. *Hemoglobin E (α2βE2) - Another variant due to a variation in the β-chain ... This elevation may be caused by congenital heart disease, cor pulmonale, pulmonary fibrosis, too much erythropoietin, or ... This variant causes a mild chronic hemolytic anemia.. *Hemoglobin AS - A heterozygous form causing sickle cell trait with one ... Anemia has many different causes, although iron deficiency and its resultant iron deficiency anemia are the most common causes ...
Hemolytic anemia, in which red blood cells are destroyed and removed from the blood, also develops. Chills, sweats, and ... or by congenital transmission (an infected mother to her baby). [3] Ticks transmit the human strain of babesiosis, so it often ... When people do develop symptoms, the most common are fever and hemolytic anemia, symptoms that are similar to those of malaria. ... In bovine species, the organism causes hemolytic anemia, so an infected animal shows pale mucous membranes initially. As the ...
Micro-: Iron deficiency anemia (Plummer-Vinson syndrome). Macro-: Megaloblastic anemia (Pernicious anemia) ... Hemolytic. (mostly Normo-). Hereditary. enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta ... Cooley's anemia)। নবজাতক যেসব শিশুর এই সমস্যা থাকে তারা জন্মের সময় বেশ স্বাস্থ্যবান থাকে। তবে জন্মের প্রথম দুই বছরের মধ্যেই এর ...
... hemolytic anemia),這取決於用量的多少和病情的嚴重性。[72] 不建議登革熱患者服用該藥,因為這會提高出血傾向。[73] 患有腎
Similar conditions include acquired hemolytic anemia, congenital toxoplasma, congenital syphilis infection, congenital ... Hemolytic anemia - Must NOT be treated with iron[29]. *Late onset anemia - Must NOT be treated with iron. Can persist up to 12 ... Hemolytic disease of the newborn, also known as hemolytic disease of the fetus and newborn, HDN, HDFN, or erythroblastosis ... a b c d Hemolytic Disease of Newborn~workup at eMedicine. *^ a b c Arora, Satyam; Doda, Veena; Maria, Arti; Kotwal, Urvershi; ...
Blood-hematologic disorder-hemolytic anemia (low red blood cell count), leukopenia (white blood cell count,4000/µl), ... "Maternal autoantibodies and congenital heart block: mediators, markers, and therapeutic approach". Semin. Arthritis Rheum. 33 ... Anemia is common in children with SLE[20] and develops in about 50% of cases.[21] Low platelet and white blood cell counts may ... Lam, SK; Quah, TC (1990). "Anemia in systemic lupus erythematosus". The Journal of the Singapore Paediatric Society. 32 (3-4): ...
Ang sakit na sickle-cell (SCD), o sickle-cell anaemia (SCA) o drepanocytosis ay isang namamanang diperensiya sa dugo na ... Ang mga krisis na haemolytic ang mga acute na bumilis na pagbagsak ng lebel ng haemoglobin. Ang mga selulang pulang dugo ay ... Ang Sickle-cell anaemia ay isang anyo ng sakit na sickle-cell kung saan may homozygosity para sa mutasyon na nagsasanhi ng HbS ... Ang sickle-cell anaemia ay maaaring humantong sa iba't ibang mga komplikasyon kabilang ang sumusunod: *Overwhelming post-(auto) ...
Hemolytic anemia. *Idiopathic thrombocytopenic purpura. *Multiple Myeloma. *Rheumatology/Immunology *Rheumatoid arthritiseas. * ... Hydrocortisone (cortisol) is typically used for replacement therapy, e.g. for adrenal insufficiency and congenital adrenal ...
In addition to chronic and/or recurrent infections many autoimmune diseases including arthritis, autoimmune hemolytic anemia, ... Primary Immunodeficiency is also known as congenital immunodeficiencies.[7] Many of these disorders are hereditary and are ... Various hormonal and metabolic disorders can also result in immune deficiency including anemia, hypothyroidism, diabetes and ...
Autoimmune hemolytic anemia. *Immune thrombocytopenic purpura. *Bullous pemphigoid. *Pemphigus vulgaris. *Rheumatic fever ...
Main articles: Congenital hemolytic anemia and Acquired hemolytic anemia. They may be classified according to the means of ... Low-grade hemolytic anemia occurs in 70% of prosthetic heart valve recipients, and severe hemolytic anemia occurs in 3%.[4] ... In cold hemolytic anemia there is advantage in transfusing warmed blood.. *In severe immune-related hemolytic anemia, steroid ... Similarly, poisoning by arsine or stibine also causes hemolytic anemia.. *Runners can suffer hemolytic anemia due to " ...
Selective vitamin B12 malabsorption (congenital-juvenile megaloblastic anemia 1-and drug-induced) ... Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results from inhibition of DNA ... Megaloblastic anemia is a blood disorder in which there is anemia with larger-than-normal red blood cells. Anemia is a ... Megaloblastic anemia has a rather slow onset, especially when compared to that of other anemias. The defect in red cell DNA ...
This congenital cause of ADAMTS13 deficiency is called Upshaw-Schülman syndrome.) A lab test showing ADAMTS13 activity levels ... aHUS often presents with malaise and fatigue, as well as microangiopathic anemia. However, severe abdominal pain and bloody ... Atypical hemolytic uremic syndrome (aHUS) has also been referred to as diarrhea-negative hemolytic-uremic syndrome (D− HUS). ... Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease that frequently has a ...
Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most ... Kabuki syndrome (the KDM6A variant); multiple congenital anomalies and mental retardation.. *Spinal and bulbar muscular atrophy ... X-linked sideroblastic anemia; skin paleness, fatigue, dizziness and enlarged spleen and liver. ...
... are feline infectious anemia (FIA) and autoimmune-mediated hemolytic anemia (AIHA).[1] Some AIHA-related diseases are inherited ... Like AIHA, myelodysplasia causes anemia and is speculated to be the cause of anemia in Somalis in the past.[8][9] ... Congenital sensorineural deafness. *Flea. *Heartworm. *Hepatic lipidosis. *Hypertrophic cardiomyopathy. *Immunodeficiency virus ...
Autoimmune hemolytic anemia. *Immune thrombocytopenic purpura. *Bullous pemphigoid. *Pemphigus vulgaris. *Rheumatic fever ... and aplastic anemia. Patients on these medications should see a doctor if they develop sore throat or fever. The most common ...
Hemolytic anemia. Anemias of increased red blood cell destruction are generally classified as hemolytic anemias. These are ... Congenital dyserythropoietic anemias, causing ineffective erythropoiesis. *Anemia of renal failure[17] (also causing stem cell ... "What Causes Anemia?". National Heart Lung and Blood Institute.. *^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Table ... Macrocytic anemia (MCV,100). Normocytic anemia (MCV 80-100). Microcytic anemia (MCV,80). ...
Certain types of hemolytic anemia. *Vasculitis. *Type 1 diabetes. *Graves' disease. *Rheumatoid arthritis ... By whether the condition is congenital or acquired. Immune disorder. Other names. Autoimmune disease. ...
HELLP syndrome - Hemolytic anemia, elevated liver enzymes and a low platelet count. Incidence is reported as 0.5-0.9% of all ... Serious pre-existing disorders which can reduce a woman's physical ability to survive pregnancy include a range of congenital ... According to the United Nations (UN) estimates, approximately half of pregnant individuals suffer from anemia worldwide. Anemia ... Anemia[edit]. Levels of hemoglobin are lower in the third trimesters. ...
Penicillamine was studied in the 1970s in hyperbilirubinemia due to ABO hemolytic disease.[27] While tin mesoporphyrin IX may ... Family history of jaundice and anemia, family history of neonatal or early infant death due to liver disease, maternal illness ... Congenital rubella syndrome. *Neonatal herpes simplex. *Mycoplasma hominis infection. *Ureaplasma urealyticum infection ...
... (HUS) is a disease characterized by a triad of hemolytic anemia (anemia caused by destruction of red ... being used to treat congenital atypical hemolytic uremic syndrome,[50] as well as severe shiga-toxin associated hemolytic ... "Hemolytic-uremic syndrome". Medscape eMedicine.. *^ Chu, P; Hemphill, RR (2004). "222: Acquired hemolytic anemia". Emergency ... GeneReviews/NCBI/NIH/UW entry on Atypical hemolytic-uremic syndrome. *Haemolytic Uraemic Syndrome Help (UK Based Charity for ...
Autoimmune hemolytic anemia. *Immune thrombocytopenic purpura. *Bullous pemphigoid. *Pemphigus vulgaris. *Rheumatic fever ... Congenital central hypoventilation syndrome. *Narcolepsy. *Cataplexy. *Kleine-Levin. *Circadian rhythm sleep disorder *Advanced ...
Autoimmune hemolytic anemia. *Immune thrombocytopenic purpura. *Bullous pemphigoid. *Pemphigus vulgaris. *Rheumatic fever ... Congenital stromal corneal dystrophy. *Raine syndrome. *Urbach-Wiethe disease. *TECTA *DFNA8/12, DFNB21 ...
Deficiency is very rare; mild hemolytic anemia in newborn infants[20] Possible increased incidence of congestive heart failure. ... Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital ... Anemia,[17] Peripheral neuropathy Impairment of proprioception, nerve damage (doses , 100 mg/day) Meat, vegetables, tree nuts, ... Megaloblastic anemia and deficiency during pregnancy is associated with birth defects, such as neural tube defects May mask ...
Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease.[citation needed] The ... Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome ... Fanconi anemia[5]. *Feingold syndrome[5]. *Fryns syndrome[5]. *MURCS association[5] ... 15 to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have ...
Micro-: Iron deficiency anemia (Plummer-Vinson syndrome). Macro-: Megaloblastic anemia (Pernicious anemia) ... Hemolytic. (mostly Normo-). Hereditary. enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta ... eMedicineHealth , anemia article Author: Saimak T. Nabili, MD, MPH. Editor: Melissa Conrad Stöppler, MD. Last Editorial Review ...
Video Tag: Congenital Hemolytic Anemia. SAGES Webinar : Preparing for the ABSITE-December 2016. ... congenital hemolytic anemia, constipation, continence, COPD, corticosteroids, Crohns colitis, Crohns disease, CT scan, CXR, ... sideroblastic anemia, sigmoid colectomy, sigmoid colon resection, sigmoid diverticulitis, sigmoidoscopy, skin, small bowel, ... microcytic hypochromic anemia, midline episiotomy, morphine-neostigmine Nardi test, mortality, mucin, mucosa, mucosal ...
congenital nonspherocytic hemolytic anaemia, hereditary nonspherocytic hemolytic anaemia, hereditary nonspherocytic hemolytic ... Disease Ontology Term: congenital nonspherocytic hemolytic anemia. DO ID. DOID:2861 Description. None. Synonyms. ... anemia, HNSHA View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources ...
congenital nonspherocytic hemolytic anemia (DOID:2861) Alliance: disease page Synonyms: hereditary nonspherocytic hemolytic ... Human Disease Modeled: congenital nonspherocytic hemolytic anemia. Associated Mouse Gene: Gpi1 Allelic Composition. Genetic ... anemia; HNSHA Alt IDs: OMIM:206300, OMIM:206400, OMIM:300908, OMIM:613470, MESH:D000746, ORDO:712, UMLS_CUI:C0002882 ...
A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. Br J Haematol. 1975;29(4):537-543.. View ... Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. Patrick G. Gallagher,1,2,3 Yelena ... Mohandas N. Inherited hemolytic anemia: a possessive beginners guide. Hematology Am Soc Hematol Educ Program. 2018;2018(1):377 ... Thus, a third of all mutant SPTA1 alleles associated with severe hemolytic anemia carried the αLEPRA variant. ...
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder ... facilitating diagnosis and treatment of severe anemia and identifying a new target for therapeutic manipulation. ...
Congenital Haemolytic Anaemia Complicated by Megaloblastic Anaemia of Pregnancy Br Med J 1957; 2 :393 ... Congenital Haemolytic Anaemia Complicated by Megaloblastic Anaemia of Pregnancy. Br Med J 1957; 2 doi: https://doi.org/10.1136/ ... Congenital Haemolytic Anaemia Complicated by Megaloblastic Anaemia of Pregnancy Your Personal Message ...
Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ... "Congenital hemolytic anemia in Bangladesh: types and clinical manifestations". Indian Pediatr. 39 (6): 574-7. PMID 12084953. ...
Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. Liu, Peng-Peng1 ... How to cite this article: Liu PP, Ding HQ, Huang SZ, Yang SY, Liu T. Severe congenital hemolytic anemia caused by a novel ... Home , January 5, 2019 - Volume 132 - Issue 1 , Severe congenital hemolytic anemia caused by a novel compoun... ... Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy ...
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there ... Congenital nonspherocytic hemolytic anemia Expand. Any one of a group of congenital hemolytic anemias in which there is no ... Anemia, Hemolytic, Congenital Nonspherocytic. Known as: Anemia, Hemolytic, Congenital Nonspherocytic [Disease/Finding], ... Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia.. *W. Zinkham, R. Lenhard ...
Close more info about Hemolysis, Inflammation, and Iron Overload Characterize Congenital Hemolytic Anemias ... Close more info about Hemolysis, Inflammation, and Iron Overload Characterize Congenital Hemolytic Anemias ... in patients with congenital hemolytic anemias (CHAs).. CHAs are rare, inherited, heterogeneous diseases characterized by ... Barcellini W, Zaninoni A, Gregorini AI, et al. Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines ...
Information on Congenital hemolytic anemia, which may include symptoms, causes, inheritance, treatments, orphan drugs, ... Other Names: Anemia hemolytic congenital, Congenital haemolytic anemia, Neonatal hemolytic anemia See more ... Dont fight Congenital hemolytic anemia alone.. Find your community on the free RareGuru App. Connect with other caregivers and ... Dont fight Congenital hemolytic anemia alone!. Find your community on the free RareGuru App. Connect with caregivers and ...
Congenital Nonspherocytic Hemolytic Anemia & Fever Symptom Checker: Possible causes include Hereditary Spherocytosis. Check the ... The anemia that results is a nonspherocytic hemolytic anemia. See also congenital nonspherocytic hemolytic anemia, favism. [ ... Anemia, Hemolytic, Congenital Nonspherocytic Any one of a group of congenital hemolytic anemias in which there is no abnormal ... Hemolytic Congenital, Nonspherocytic Anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal ...
Congenital Hemolytic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your ... Congenital Nonspherocytic Hemolytic Anemia & Pediatric Disorder Symptom Checker: Possible causes include Hereditary ... Hemolytic Congenital, Nonspherocytic Anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ...
Variants studied for HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED Coded as: *MONDO:0060455 ...
Variants studied for X-linked congenital hemolytic anemia Included ClinVar conditions (1):*X-linked congenital hemolytic anemia ...
Congenital Syphilis Back to Top * Oncology Nurse Advisor offers clinical updates and evidence-based guidance to the oncology ... The clinical presentations of G-6-PD deficiency can vary from acute hemolytic anemia, to chronic hemolytic anemia, neonatal ... Hemolytic anemia may be due to an enzyme deficiency within the red blood cells. Deficiencies of most of the enzymes of the ... Hemolytic anemias may be due to factors external to the red blood cell (e.g., circulating autoantibodies to RBCs in Immune ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Congenital hemolytic anemia ... ClinicalTrials.gov lists trials that are related to Congenital hemolytic anemia. Click on the link to go to ClinicalTrials.gov ... European Network for Rare and Congenital Anaemias (ENERCA) University of Barcelona Red Cell Pathology Unit C/Villarroel, 170 - ...
Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase ( ... Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.. 18th July 2020. ... Clinical features are heterogeneous among CEP patients but usually combine skin photosensitivity and chronic hemolytic anemia, ... Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase ( ...
Congenital spherocytic anemia. Congenital spherocytic anemia is a disorder of the surface layer (membrane) of red blood cells. ... Hemolytic anemia. Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide ... hemolytic anemia, and hereditary elliptocytosis. These are all rare conditions. ...
Find out all about this type of anemia and what treatment options a… ... Hemolytic anemia is a form of anemia that speeds up the natural process of red blood cells. ... Congenital Hemolytic Anemia. There are at least two genetic problems that cause enzyme deficiencies which destroy red blood ... Hemolytic Anemia at a glance. *1There are several types of hemolytic anemia in dogs. ...
Anemia is characterized by a reduction in the number of circulating red blood cells (RBCs), the amount of hemoglobin, or the ... volume of packed red blood cells (hematocrit). Anemia is classified as acute or chronic. ... Autoimmune hemolytic anemia. Autoimmune hemolytic anemia may be life threatening. The disorder is seen in association with ... Acute anemia due to congenital bleeding disorders. Treatment of von Willebrand disease is with desmopressin (DDAVP), ...
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations *Hiromi ... Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations *Hiromi ... Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability Congenital ... Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability *Amjad Khan ...
Synonyms of Anemia, Hereditary Spherocytic Hemolytic. *Acholuric Jaundice. *Chronic Acholuric Jaundice. *Congenital Hemolytic ... Warm Antibody Hemolytic Anemia, Cold Antibody Hemolytic Anemia, Acquired Autoimmune Hemolytic Anemia, Pernicious Anemia, Folic ... Blackfan-Diamond Anemia, Sickle Cell Anemia, and Fanconis Anemia. (For information on other types of Anemias, choose "Anemia" ... Hemolytic anemias, including hereditary spherocytic hemolytic anemia, have two distinct laboratory findings: a reduction in the ...
A form of hemolytic anemia with congenital onset. [HPO:probinson]. NCI Thesaurus A congenital hemolytic anemia caused by ... Congenital hemolytic anemia, NOS. English. SNOMED Intl DC-10107 L0002881. preferred. S0845259. Y. Congenital haemolytic anaemia ... Congenital hemolytic anemia (disorder). English. SNOMEDCT_US 38911009 L2822880. no. S3350063. Y. Hereditary hemolytic anemia ( ... congenital hemolytic anemia. English. (CPTSP) CRISP Thesaurus 0427-1351 L0002881. preferred. S0416932. N. congenital hemolytic ...
anemia of chronic inflammation. Inflammatory anemia.. congenital hemolytic anemia. Any of a group of inherited chronic diseases ... congenital hypoplastic anemia. Diamond-Blackfan anemia.. Cooley anemia. See: Cooley anemia. deficiency anemia. Anemia due to ... Synonym: nutritional anemia. Diamond-Blackfan anemia. See: Diamond-Blackfan anemia. erythroblastic anemia. Anemia resulting ... Other such anemias include congenital elliptocytosis, hereditary stomatocytosis, and hemolytic anemias caused by enzymatic ...
Congenital hemolytic anemia. *Disorder in which RBCs break down when the body is exposed to certain medicines or is stressed ... Low number of RBCs due to the body destroying them (immune hemolytic anemia) ... Anemia caused by bone marrow not producing normal blood cells due to toxins or tumor cells (myelophthisic process) ... Infection in the digestive system producing toxic substances that destroy RBCs, causing kidney injury (hemolytic uremic ...
Purchase Anemia, An Issue of Medical Clinics of North America, Volume 101-2 - 1st Edition. Print Book & E-Book. ISBN ... Autoimmune Hemolytic Anemia; Congenital Hemolytic Anemia; Sickle Cell Disease; Thrombotic Microangiopathy; Unusual Anemias; and ... Thomas G. DeLoughery, is devoted to anemia. Articles in this issue include: Anemia: Evaluation and Diagnostic Tests; Anemia of ... Anemia, An Issue of Medical Clinics of North America, Volume 101-2 1st Edition. ...
Anemia, Hereditary Nonspherocytic Hemolytic. Synonyms of Anemia, Hereditary Nonspherocytic Hemolytic. *Congenital ... warm antibody hemolytic anemia, cold antibody hemolytic anemia, acquired autoimmune hemolytic anemia, pernicious anemia, folic ... sickle cell anemia, and Fanconis anemia. (For information on other types of anemias, use the name of the specific anemia as ... Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later. Baillieres ...
In their recent review of acute hemolytic anemia, Dameshek and Schwartz7a classify hemolytic anemia as follows:. A. Congenital ... Symptomatic hemolytic anemia may be defined as a hemolytic syndrome often indistinguishable by hematological methods from the ... Cold Agglutinin Hemolytic Anemia: Management with an Environmental Suit Annals of Internal Medicine; 106 (2): 243-244 ... Autoimmune Neutropenia, Hemolytic Anemia, and Reticulocytopenia in Hodgkins Disease Annals of Internal Medicine; 100 (5): 702- ...
Congenital spherocytic hemolytic anemia. *Congenital spherocytosis. *HS. *Spherocytic anemia. *Spherocytosis, type 1 ... People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have ... Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with ... People with this condition typically experience a shortage of red blood cells (anemia. ), yellowing of the eyes and skin ( ...
  • Autoimmune hemolytic anemia may be life threatening. (medscape.com)
  • Corticosteroids are indicated in autoimmune hemolytic anemia (AIHA). (medscape.com)
  • In autoimmune hemolytic anemia (AIHA), typing and cross-matching may be difficult. (medscape.com)
  • Are you familiar with autoimmune hemolytic anemia? (healthtap.com)
  • How well can acupuncture treat autoimmune hemolytic anemia? (healthtap.com)
  • Is ANA and autoimmune hemolytic anemia are same or are related? (healthtap.com)
  • Hemolytic anemia is a anemia or low blood count secondary to the breakdown of red cells typically secondary to an autoimmune disease . (healthtap.com)
  • Autoimmune hemolytic anemia is a true finding in an autoimmune disease. (healthtap.com)
  • Does autoimmune hemolytic anemia affect WBC? (healthtap.com)
  • In most cases autoimmune hemolytic anemia does not affect WBC. (healthtap.com)
  • But some autoimmune disorders like SLE may cause hemolytic anemia and neutropenia as well. (healthtap.com)
  • Autoimmune hemolytic anemia is what sort of symptoms or problems? (healthtap.com)
  • In autoimmune hemolytic anemia (aiha) red cells get broken open due to destruction by antibodies which attach to the red cell. (healthtap.com)
  • Idiopathic autoimmune hemolytic anemia - what are the chances of dying? (healthtap.com)
  • Are ANA and autoimmune hemolytic anemia exactly the same? (healthtap.com)
  • You can have autoimmune hemolytic anemia , with or without positive ana, have to put in context with other tests and the person's condition. (healthtap.com)
  • Does the autoimmune hemolytic anemia have to do with my husbands low sex libido? (healthtap.com)
  • Autoimmune hemolytic anemia is typically a problem secondary to an autoimmune disease . (healthtap.com)
  • Can getting a blood transfusion give me autoimmune hemolytic anemia? (healthtap.com)
  • There are also several causes of autoimmune hemolytic anemia that are not inherited. (healthtap.com)
  • B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic anemias (e.g., sickle cell disease, hemoglobin SC disease, hereditary spherocytosis, alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). (cdc.gov)
  • Autoimmune hemolytic anemia (AIHA) is an acquired disorder characterized by the production of autoantibodies with high affinity for autologous erythrocyte antigens causing red blood cell (RBC) destruction and a resultant wide spectrum of symptomatology and laboratory findings. (springer.com)
  • Iafusco F, Buffa V. Autoimmune hemolytic anemia in a newborn infant. (springer.com)
  • Pure red-cell aplasia and autoimmune hemolytic anemia in a patient with acute hepatitis A. (biomedsearch.com)
  • Pure red cell aplasia (PRCA) and autoimmune hemolytic anemia (AIHA) have rarely been reported as an extrahepatic manifestation of acute hepatitis A (AHA). (biomedsearch.com)
  • Pure red cell anemia (PRCA) and autoimmune hemolytic anemia (AIHA) are another rare extrahepatic manifestation of AHA. (biomedsearch.com)
  • This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abnormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. (wikipedia.org)
  • Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (semanticscholar.org)
  • Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). (semanticscholar.org)
  • Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (semanticscholar.org)
  • Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia. (semanticscholar.org)
  • [dx.doi.org] In this later group of " congenital nonspherocytic hemolytic anemias " splenectomy has often been performed but usually does not produce a clinical cure. (symptoma.com)
  • [books.google.de] The phenotype of severe nonspherocytic hemolytic anemia , jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital dyserythropoietic [readbyqxmd.com] Pediatr Res. (symptoma.com)
  • Under these conditions, a nonspherocytic hemolytic anemia typically develops 1 to 3 days later. (oncologynurseadvisor.com)
  • Hereditary nonspherocytic hemolytic anemia is a term used to describe a group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells (erythrocytes or RBCs). (rarediseases.org)
  • There may be as many as 16 red blood cell enzyme abnormalities that may cause hereditary nonspherocytic hemolytic anemia. (rarediseases.org)
  • The symptoms of hereditary nonspherocytic hemolytic anemia may include moderate anemia (which may cause tiredness), recurrent yellow appearance to the skin (jaundice), and an abnormally large spleen (splenomegaly) and/or liver (hepatomegaly). (rarediseases.org)
  • When the red blood cells (erythrocytes) of a newborn contain irregularly shaped bits of abnormal hemoglobin (Heinz bodies), a diagnosis of nonspherocytic hemolytic anemia can be made. (rarediseases.org)
  • When hereditary nonspherocytic hemolytic anemia is associated with defects in the membrane of red blood cells, or defects in a chemical step in the synthesis of hemoglobin from its component parts (porphyrin), or in the breakdown of sugars, the disorder is inherited as an autosomal recessive genetic trait. (rarediseases.org)
  • Results from a study recently published in the British Journal of Haematology indicate a pathological cycle with hemolysis, inflammatory response, and iron overload (IO) in patients with congenital hemolytic anemias (CHAs) . (clinicaladvisor.com)
  • Hemolytic anemias may be due to factors external to the red blood cell (e.g., circulating autoantibodies to RBCs in Immune mediated hemolysis) or factors intrinsic to the red blood cell (e.g. (oncologynurseadvisor.com)
  • Common infectious agents precipitating acute hemolysis in patients with G-6-PD deficiency include Salmonella, E-coli, beta-hemolytic Streptococci, viral hepatitis, influenza A, and rickettsia. (oncologynurseadvisor.com)
  • Hemolysis and iron overload improved upon iron chelation with a full correction of anemia in CEP mice treated at the highest dose of deferiprone. (clinowl.com)
  • Acute anemia denotes a precipitous drop in the RBC population due to hemolysis or acute hemorrhage. (medscape.com)
  • There are numerous types of hemolytic anemia, and treatment may differ depending on the type of hemolysis. (medscape.com)
  • The main problem in these patients is severe anemia due to decreased hemoglobin production, as well as continuous reduction of erythrocytes (red blood cells) due to hemolysis. (mitera.gr)
  • Anemia develops when either blood loss, a slow-down in the production of new RBCs (erythropoiesis), or an increase in red cell destruction (hemolysis) causes significant reductions in RBCs, Hgb, iron levels, and the essential delivery of oxygen to body tissues. (encyclopedia.com)
  • The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. (jci.org)
  • Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane Hereditary spherocytosis Hereditary elliptocytosis Genetic conditions of RBC metabolism (enzyme defects). (wikipedia.org)
  • Diseases or disorders of blood cells, such as idiopathic thrombocytopenia purpura (ITP), hereditary spherocytosis , thalassemia, hemolytic anemia , and hereditary elliptocytosis . (scripps.org)
  • Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. (medlineplus.gov)
  • Spherocytosis causes your red blood cells to break down faster than healthy cells do, which can lead to anemia. (healthline.com)
  • If spherocytosis causes anemia, you may appear paler than normal. (healthline.com)
  • Overall, the most common findings in hereditary spherocytosis are anemia, jaundice, and an enlarged spleen. (healthline.com)
  • Spherocytosis is a hereditary disorder of the red blood cells (RBCs), which may be associated with a mild anemia. (mountsinai.org)
  • The infant patient we reported was the first child of a non-consanguineous married Chinese woman, with no family history of jaundice or anemia. (lww.com)
  • Symptoms of hereditary spherocytic hemolytic anemia may include excessive tiredness and a moderate persistent yellow appearance to the skin (jaundice). (rarediseases.org)
  • Usually people with hereditary spherocytic hemolytic anemia have a family history of anemia, jaundice, or spleen enlargement (splenomegaly). (rarediseases.org)
  • Symptomatic hemolytic anemia may be defined as a hemolytic syndrome often indistinguishable by hematological methods from the well-known picture of familial hemolytic jaundice, but showing a definite etiological relationship to such underlying diseases as neoplasm (teratoma, sarcoma), leukemia, and Hodgkin's disease. (annals.org)
  • People with the moderate form typically have anemia, jaundice, and splenomegaly. (medlineplus.gov)
  • This leads to anemia and fatigue, tiredness, and sometimes yellow eyes (scleral icterus) and yellow skin (jaundice). (healthtap.com)
  • It can be acute, which can be life threatening or chronic or delayed, which usually causes anemia and jaundice. (healthtap.com)
  • During the past six years opportunity has been afforded to study 35 patients 2 exhibiting evidence of hemolytic anemia or jaundice. (annals.org)
  • mild anemia and jaundice 2. (scribd.com)
  • Jaundice is the most common symptom in newborns, rather than anemia, especially in first week of life. (healthline.com)
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD or favism) Pyruvate kinase deficiency Aldolase A deficiency Hemoglobinopathies/genetic conditions of hemoglobin Sickle cell anemia Congenital dyserythropoietic anemia Thalassemia Hematopoietic ulcer List of circulatory system conditions Rahman SA, Jamal CY (June 2002). (wikipedia.org)
  • Hemolytic anemia may be due to an enzyme deficiency within the red blood cells. (oncologynurseadvisor.com)
  • The clinical presentations of G-6-PD deficiency can vary from acute hemolytic anemia, to chronic hemolytic anemia, neonatal hyperbilirubinemia, or the absence of any clinical symptoms. (oncologynurseadvisor.com)
  • Like G-6-PD deficiency, the clinical spectrum of individuals with the homozygous PK deficiency ranges from severe neonatal anemia and hyperbilirubinemia requiring exchange transfusion to a fully compensated, mild chronic hemolytic anemia. (oncologynurseadvisor.com)
  • Drug induced hemolytic anemias associated with an unstable hemoglobin may present with clinical laboratory features similar to G-6-PD deficiency, including the hallmark "hemighost" cell on the peripheral blood smear. (oncologynurseadvisor.com)
  • Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological porphyrin isomer I metabolites. (clinowl.com)
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase (PK) deficiency are the 2 most common enzyme defects that cause hemolytic anemia. (medscape.com)
  • Chronic blood loss usually produces iron-deficiency anemia. (thefreedictionary.com)
  • Iron deficiency is the most common cause of anemia throughout the world. (britannica.com)
  • Persons with iron-deficiency anemia are pale but not jaundiced. (britannica.com)
  • With the exception of iron deficiency and thalassemia, hypochromic microcytic anemia is rare. (britannica.com)
  • Iron deficiency anemia is the most common form of anemia worldwide. (encyclopedia.com)
  • The onset of iron deficiency anemia is gradual and may not have early symptoms. (encyclopedia.com)
  • Folic acid deficiency anemia is the most common type of megaloblastic anemia, arising from a problem with the synthesis of deoxyribonucleic acid (DNA) within the cells of the body. (encyclopedia.com)
  • Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. (biomedsearch.com)
  • Congenital pyrimidin 5'nucleotidase deficiency manifests as hemolytic anemia with basophilic stippling. (biomedsearch.com)
  • In lead poisoning, anemia, basophilic stippling and inhibition of erythrocyte pyrimidin 5' deficiency are also observed. (biomedsearch.com)
  • In the present work, we report two cases of hemolytic anemia secondary to congenital deficiency of pyrimidin 5' nucleotidase and another case secondary to lead poisoning. (biomedsearch.com)
  • [ 41 ] and in post-diarrheal hemolytic uremic syndrome. (medscape.com)
  • Anemia is characterized by a reduction in the number of circulating red blood cells (RBCs), the amount of hemoglobin, or the volume of packed red blood cells (hematocrit). (medscape.com)
  • It is generally accepted that an acute drop in hemoglobin to a level of 7-8 g/dL is symptomatic, whereas levels of 4-5 g/dL may be tolerated in chronic anemia, as the body is able to gradually replace the loss of intravascular volume. (medscape.com)
  • The diagnosis of anemia is influenced by variables such as the patient's age (neonates are anemic at levels of hemoglobin that would be considered polycythemic in some adults), gender (men have higher hemoglobin levels than women), pregnancy status (hemodilution in pregnancy lowers measured hemoglobin), residential altitude, and ethnic or racial background. (thefreedictionary.com)
  • Symptomatic anemia exists when hemoglobin content is less than that required to meet the oxygen-carrying demands of the body. (thefreedictionary.com)
  • If anemia develops slowly, however, there may be no functional impairment even though the hemoglobin is less than 7 g/100/dL of blood. (thefreedictionary.com)
  • People with sickle cell anemia have abnormal hemoglobin, the molecules responsible for carrying oxygen in the blood. (clinicaltrials.gov)
  • Furthermore, a number of recent studies have suggested that NO may have a favorable impact on sickle hemoglobin at the molecular level and could improve the abnormal microvascular perfusion that is characteristic of sickle cell anemia. (clinicaltrials.gov)
  • Unstable hemoglobin as a cause of congenital hemolytic anemia. (bvsalud.org)
  • adv. Symptomatic anemia exists when hemoglobin content is less than meets the oxygen-carrying demands of the body. (tabers.com)
  • In normocytic anemias, the mean corpuscular volume (MCV) is within defined normal limits, but the hemoglobin and hematocrit are decreased. (aafp.org)
  • Hypochromic microcytic anemias, characterized by the presence in the circulating blood of red cells that are smaller than normal and poorly filled with hemoglobin, fall into two main categories. (britannica.com)
  • It is seen in anemia responsive to vitamin B 6 (pyridoxine), where the anemia probably results from a metabolic fault in the synthesis of the heme portion of hemoglobin. (britannica.com)
  • Sakuragawa M, Ohba Y, Miyaji T, Yamamoto K, Miwa S. A Japanese boy with hemolytic anemia due to an unstable hemoglobin (Hb Bristol). (springer.com)
  • Congenital hemolytic anemia caused by the carriage of hemoglobin Bristol ß67 Bal→Asp. (springer.com)
  • Anemia is a blood disorder characterized by abnormally low levels of healthy red blood cells (RBCs) or reduced hemoglobin (Hgb), the iron-bearing protein in red blood cells that delivers oxygen to tissues throughout the body. (encyclopedia.com)
  • Anemia in newborn infants is noted when hemoglobin levels are lower than expected for the birth weight and postnatal age. (encyclopedia.com)
  • A 49-year-old female with a diagnosis of AHA presented with severe anemia (hemoglobin level, 6.9 g/dL) during her clinical course. (biomedsearch.com)
  • Von Willebrand disease is the most common congenital bleeding disorder. (medscape.com)
  • Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. (rarediseases.org)
  • At times, other family members can be identified with this disorder, but in other cases people with hereditary spherocytic hemolytic anemia may have no family history of the disorder that can be traced. (rarediseases.org)
  • The specific hemolytic disorder should be treated. (thefreedictionary.com)
  • Iron overload due to multiple transfusions for chronic anemia (eg, thalassemia or sickle cell disorder) can be treated with chelation therapy. (medscape.com)
  • Sickle cell anemia is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. (clinicaltrials.gov)
  • Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. (mountsinai.org)
  • While the only diagnostic "gold standard" mechanism of diagnosis en vivo is via kidney biopsy, the clinical conditions and blood clotting disorder often associated with this disease may make it impractical in a clinical setting. (wikipedia.org)
  • Patients with thalassemia major (homozygous for beta thalassemia) develop severe anemia that requires transfusion in the first year of life. (medscape.com)
  • Other forms of thalassemia may cause acute anemia during periods of oxidative stress. (medscape.com)
  • Patients with beta-thalassemia (Cooley's Anemia) continue to suffer from the transfusion-induced iron overload due to the inadequacies of current iron-chelation therapy. (clinicaltrials.gov)
  • Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. (wikipedia.org)
  • Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. (nature.com)
  • For bone marrow disorders, if anemia is due to a toxic state, removal of the toxic agent may result in spontaneous recovery. (thefreedictionary.com)
  • There is a general impression that additional studies should be carried out to establish the role and indications for EPO in hemolytic disorders. (medscape.com)
  • Thalassemias and drepanocytic anemias are the most commonly encountered single-gene blood disorders worldwide, so diagnosis and treatment of patients constitutes a major public health issue. (mitera.gr)
  • Respirocytes could also aid in the treatment of childhood afflictions such as whooping cough, cystic fibrosis, rheumatic heart disease and rheumatic fever, congenital heart disorders and laryngotracheobronchitis (croup). (foresight.org)
  • The majority of patients with variants of G-6-PD only manifest symptoms under conditions of oxidative stress, most commonly caused by infection due to Salmonella, E-coli, beta-hemolytic Streptococci, influenza A, viral hepatitis, and rickettsial pathogens. (oncologynurseadvisor.com)
  • The basic symptoms of any type of anemia are pale gums, weakness, and lethargy. (petcarerx.com)
  • People with the mild form may have very mild anemia or sometimes have no symptoms. (medlineplus.gov)
  • In children with other congenital hemolytic anemias, a partial splenectomy appears to control symptoms of hypersplenism and splenic sequestration. (elsevier.com)
  • Symptoms of anemia, especially weakness and fatigue, develop at this stage. (encyclopedia.com)
  • The presence of hemolysins in acute hemolytic anemia. (springer.com)
  • Infectious organisms may cause hemolytic anemia through the direct action of toxins (eg, from Clostridium perfringens , alpha- or beta-hemolytic streptococci, meningococci), by invasion and destruction of the RBC by the organism (eg, Plasmodium sp, Bartonella sp), or by antibody production (Epstein-Barr virus, mycoplasma). (merckmanuals.com)
  • Our patient presented at age 37 with recurrent pulmonary emboli, 36 years after splenectomy for severe hemolytic anemia. (nih.gov)
  • Summary Background Data: The use of total splenectomy for symptomatic children with congenital hemolytic anemias is restricted by concern of postsplenectomy sepsis. (elsevier.com)
  • The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. (elsevier.com)
  • Patients with sickle cell anemia may have life-threatening complications during acute splenic sequestration and aplastic crisis. (medscape.com)
  • An infection is the most common cause of the temporary failure of the bone marrow to produce blood components (aplastic crisis) in people with hereditary spherocytic hemolytic anemia. (rarediseases.org)
  • This report* was developed to assist physicians, public health officials, and other health-care professionals respond to public concerns about recently recognized, serious complications of human parvovirus B19 (B19) infection, including transient aplastic crisis (TAC), chronic anemia, and fetal death. (cdc.gov)
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. (cdc.gov)
  • Abnormalities within the red cell are usually congenital and hereditary. (britannica.com)
  • Quantitative and functional abnormalities of certain RBC membrane proteins (alpha- and beta-spectrin, protein 4.1, F-actin, ankyrin) cause hemolytic anemias. (merckmanuals.com)
  • intrinsic RBC abnormalities (see table Hemolytic Anemias ) are usually inherited. (merckmanuals.com)
  • Thromboembolism has been reported as a complication following splenectomy for various hereditary chronic hemolytic anemias. (nih.gov)
  • Since its discovery, B19 has been shown to be the causative agent of erythema infectiosum (EI) (also known as fifth disease) and is the primary etiologic agent of TAC in patients with chronic hemolytic anemias (2-4). (cdc.gov)
  • This occurs when the red blood cells are attacked by the dog's own immune system, and is the most common form of hemolytic anemia in dogs past puppyhood. (petcarerx.com)
  • Dogs with immune-mediated hemolytic anemia are usually 2 to 8 years old and female. (petcarerx.com)
  • Children with sickle cell anemia (SCA) are 200 times more likely to have cerebrovascular disease than normal children and are known to have an altered immune response to many infectious pathogens. (clinicaltrials.gov)
  • You probably mean immune hemolytic anemia , which is a result of mismatch between antigens present on surface of red cells. (healthtap.com)
  • Objective: To assess the role of partial splenectomy for symptomatic children with various congenital hemolytic anemias. (elsevier.com)
  • Methods: This longitudinal cohort study followed 25 symptomatic children with various congenital anemias who underwent partial splenectomy. (elsevier.com)
  • Ware, Russell E. / Clinical and Hematologic Benefits of Partial Splenectomy for Congenital Hemolytic Anemias in Children . (elsevier.com)
  • In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005 to 2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. (elsevier.com)
  • Splenectomy in Congenital Hemolytic Anemia (SICHA) Consortium 2015, ' Clinical outcomes of splenectomy in children: Report of the splenectomy in congenital hemolytic anemia registry ', American Journal of Hematology , vol. 90, no. 3, pp. 187-192. (elsevier.com)
  • Surgery to remove the spleen ( splenectomy ) cures the anemia but does not correct the abnormal cell shape. (mountsinai.org)
  • After splenectomy when the patient was 4 years of age, laboratory findings of hemolytic anemia became more prominent. (springer.com)
  • These results demonstrate that a unique mechanism of human genetic disease contributes to the etiology of a third of rHS cases, facilitating diagnosis and treatment of severe anemia and identifying a new target for therapeutic manipulation. (jci.org)
  • Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC), including hemoglobinopathies, membrane and cytoskeleton defects, and metabolic enzymopathies etc. (lww.com)
  • A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. (doctor.am)
  • The diagnosis and treatment of cold agglutinin hemolytic anemia has been reviewed. (medscape.com)
  • Acute pain crisis and acute chest syndrome (ACS) are common complications of sickle cell anemia. (clinicaltrials.gov)
  • Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. (stanford.edu)
  • Iron therapy is contraindicated in most cases of hemolytic anemia. (medscape.com)
  • Respirocytes may be useful in perinatal medicine, as for example infusions of device suspension to treat fetal anemia (erythroblastosis fetalis), neonatal hemolytic disease, or in utero asphyxia from partial detachment of the placenta or maternal hypoxia, to restore the oxygen-carrying ability of fetal blood. (foresight.org)
  • Anemia is not a disease but rather a symptom of other illnesses. (thefreedictionary.com)
  • Sickle cell anemia is the most common genetic disease affecting African-Americans. (clinicaltrials.gov)
  • Sickle cell anemia patients with an elevated velocity on transcranial doppler ultrasound (TCD) are known to be at high risk to develop stroke and an elevated TCD likely reflects underlying vascular disease. (clinicaltrials.gov)
  • Anemia of chronic disease, the most common normocytic anemia, is found in 6 percent of adult patients hospitalized by family physicians. (aafp.org)
  • Anemia should be considered a sign, not a disease. (aafp.org)
  • Congenital erythropoietic porphyria (CEP) is a rare, hereditary disease of cattle, pigs, cats, and people that results from a significant yet variable decrease in uroporphyrinogen III synthase (URO-synthase) activity. (merckvetmanual.com)
  • Hemolytic Disease of the New born (HDN) First Pregnancy Rh+ve fetus in Rh-ve mother-no antibodies present. (scribd.com)
  • Hemolytic Disease of the New born (HDN) The effect are graded into 3 categories of severity: 1. (scribd.com)
  • Pauling L. Sickle cell anemia: a molecular disease. (springer.com)
  • Children with congenital heart disease often grow and develop more slowly than other children. (chkd.org)
  • Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria. (clinowl.com)
  • Researchers assessed the predictive value of various laboratory parameters for iron overload in patients with congenital hemolytic anemias. (clinicaladvisor.com)
  • Connect with other caregivers and patients with Congenital hemolytic anemia and get the support you need. (rareguru.com)
  • Clinical features are heterogeneous among CEP patients but usually combine skin photosensitivity and chronic hemolytic anemia, whose severity is related to porphyrin overload. (clinowl.com)
  • This clinical trial is designed to evaluate the physiologic and molecular effects of inhaled NO and a currently available, safe, FDA-approved medication, nitroglycerin, that is a nitric oxide donor (i.e., a source of NO after metabolism in the body), in study subjects with and without sickle cell anemia. (clinicaltrials.gov)
  • Historically, assessments of haemolytic risk have focused on the clinical outcomes (e.g., haemolysis) associated with either a simplified phenotypic G6PD characterisation (deficient or normal) or an ill-fitting classification of G6PD genetic variants. (frontiersin.org)
  • The anaemia induced by B19 infection is of minor clinical significance in healthy children and adults, however, it becomes critical in those afflicted with haemolytic diseases. (deepdyve.com)
  • In this review, we address the clinical manifestations and molecular mechanisms for B19‐induced anaemia in humans and a mouse model, and of B19‐induced cell cycle arrests in erythroid cells. (deepdyve.com)
  • The prevalence of anemia increases with age and is 44.4 percent in men 85 years and older. (aafp.org)
  • A diagnostic workup revealed AIHA and PRCA as the cause of the anemia. (biomedsearch.com)
  • Idiopathic Heinz body anemia: Hb-Bristol (ß67 (E11) Val to Asp). (springer.com)
  • Cathie I. Apparent idiopathic Heinz body anemia. (springer.com)
  • In all hemolytic anemias, there is excessive destruction of red blood cells. (rarediseases.org)
  • Anemia can also be caused by the destruction of red blood cells or reduced red blood cell production. (encyclopedia.com)
  • Hemolytic anemias, including hereditary spherocytic hemolytic anemia, have two distinct laboratory findings: a reduction in the life span of red blood cells and the retention of iron within the body particularly in those cells that have the ability to dispose of wastes and toxins (reticuloendothelial system or RES). (rarediseases.org)
  • Hereditary spherocytic hemolytic anemia is caused by an inherited metabolic defect. (rarediseases.org)
  • Sideroblastic anemia, characterized by the presence in the bone marrow of nucleated red blood cells, the nucleus of which is surrounded by a ring of iron granules (ringed sideroblasts) and by a proportion of small, pale red cells in the blood, is of unknown cause and difficult to treat. (britannica.com)
  • Hematologic Toxicity: Granulocytopenia, anemia, thrombocytopenia, and pancytopenia have been reported in patients treated with CYTOVENE-IV. (nih.gov)
  • This issue of Hematology/Oncology Clinics of North America, guest edited by Dr. Robert Brodsky, is devoted to Complement-mediated Hemolytic Anemias. (ramex.com)
  • Εffectively contribute towards safe diagnosis of anemias, especially in childhood. (mitera.gr)
  • Diagnosis of these anemias, mainly in childhood, is based on a series of general and special lab tests. (mitera.gr)
  • This ensures accurate diagnosis of all hereditary hemolytic anemias. (mitera.gr)
  • The new Hereditary Hemolytic Anemia Department established within MITERA Children's Hospital can effectively contribute towards safe diagnosis of anemias, especially in childhood. (mitera.gr)
  • The diagnosis of hemolytic anemia was made when the patient was 6 months of age. (springer.com)
  • To establish a link among Chlamydia infection, sickle cell anemia, and stroke risk. (clinicaltrials.gov)