Anemia: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Anemia, Hemolytic, Autoimmune: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.Anemia, Hemolytic, Congenital: Hemolytic anemia due to various intrinsic defects of the erythrocyte.Hemolysis: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.Anemia, Aplastic: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.Hemolytic Agents: Substances that are toxic to blood in general, including the clotting mechanism; hematotoxins may refer to the hematopoietic system.Fanconi Anemia: 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)Anemia, Hemolytic, Congenital Nonspherocytic: 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.Hemolytic-Uremic Syndrome: 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, Hypochromic: 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, Macrocytic: Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).Anemia, Pernicious: 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)Anemia, Sickle Cell: 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.Hemolysin Proteins: 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.Hemoglobins: 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, Sideroblastic: Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Coombs Test: 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.Anemia, Megaloblastic: A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.Infectious Anemia Virus, Equine: 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.Anemia, Refractory: A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.Complement Hemolytic Activity Assay: 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.Erythropoietin: 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.Hemolytic Plaque Technique: 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)Equine Infectious Anemia: 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.Erythroblastosis, Fetal: 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.Phenylhydrazines: Diazo derivatives of aniline, used as a reagent for sugars, ketones, and aldehydes. (Dorland, 28th ed)Chicken anemia virus: 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.Spherocytosis, Hereditary: 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.Anemia, Dyserythropoietic, Congenital: 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.Iron: 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.Heinz Bodies: 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.Erythrocyte Count: The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.Anemia, Diamond-Blackfan: 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)Fanconi Anemia Complementation Group Proteins: 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.Pregnancy Complications, Hematologic: 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.Reticulocyte Count: 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.Hematocrit: 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.Erythrocyte Aging: 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.Osmotic Fragility: 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.Erythropoiesis: 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.Erythrocytes, Abnormal: Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.Anemia, Neonatal: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.Blood Transfusion: The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)Glucosephosphate Dehydrogenase Deficiency: 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.Hematinics: 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.Anemia, Refractory, with Excess of Blasts: Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells.Erythrocyte Indices: 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).Erythrocyte Membrane: The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.Fanconi Anemia Complementation Group C Protein: 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.Rh-Hr Blood-Group System: 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.Fanconi Anemia Complementation Group D2 Protein: 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.Fanconi Anemia Complementation Group A Protein: 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.Hemoglobinometry: Measurement of hemoglobin concentration in blood.Complement System Proteins: 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).Streptolysins: Exotoxins produced by certain strains of streptococci, particularly those of group A (STREPTOCOCCUS PYOGENES), that cause HEMOLYSIS.Ferritins: 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.Pallor: A clinical manifestation consisting of an unnatural paleness of the skin.Erythrocyte Transfusion: The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.Complement Factor H: 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).Shiga Toxin: 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.Blood Group Incompatibility: 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, Abnormal: 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.Splenectomy: Surgical procedure involving either partial or entire removal of the spleen.Antimicrobial Cationic Peptides: 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.Splenomegaly: Enlargement of the spleen.Cytotoxins: 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.Thrombotic Microangiopathies: 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.Molecular Sequence Data: 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.Hemoglobinuria, Paroxysmal: 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.Reticulocytes: 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.Complement Activation: 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.Rh Isoimmunization: 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.Bacterial Toxins: 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.Fanconi Anemia Complementation Group G Protein: 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.Thrombocytopenia: A subnormal level of BLOOD PLATELETS.Horses: 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.Plasma Exchange: 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.Thalassemia: 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.Sheep: 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.Sea Cucumbers: A class of Echinodermata characterized by long, slender bodies.Chromium Isotopes: 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.beta-Thalassemia: 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.Bone Marrow: 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.MethemoglobinPyruvate Kinase: 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 2.7.1.40.Spherocytes: Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.Iron, Dietary: 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.Escherichia coli Infections: Infections with bacteria of the species ESCHERICHIA COLI.Hemoglobinopathies: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.Blood Transfusion, Intrauterine: In utero transfusion of BLOOD into the FETUS for the treatment of FETAL DISEASES, such as fetal erythroblastosis (ERYTHROBLASTOSIS, FETAL).Mutation: 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.Amino Acid Sequence: 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.Escherichia coli O157: 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.Blood Cell Count: 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.Iron Compounds: Organic and inorganic compounds that contain iron as an integral part of the molecule.Hepcidins: 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.Favism: 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.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Treatment Outcome: 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.Primaquine: 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)Fetal Hemoglobin: 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.Hemoglobinuria: 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.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Complement C3: 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.Spectrin: 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.alpha-Thalassemia: 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.Glucosephosphate DehydrogenasePrevalence: 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.Erythroblasts: 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.Infant, Newborn: An infant during the first month after birth.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Hemoglobin, Sickle: 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.Shiga Toxin 2: 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.Hematologic Diseases: Disorders of the blood and blood forming tissues.Complement Factor I: 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.Vitamin B 12 Deficiency: 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)Complement C5: 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.Malaria: 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.Spleen: An encapsulated lymphatic organ through which venous blood filters.Reticulocytosis: 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.Shiga Toxin 1: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Escherichia coli: 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.Risk Factors: 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 Pathway, Alternative: 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.Isavirus: A genus in the family ORTHOMYXOVIRIDAE containing one species: Infectious salmon anemia virus.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Pancytopenia: Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.Rabbits: 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.Iron Overload: 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)Blood Grouping and Crossmatching: 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.Dapsone: 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)Retrospective Studies: 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.Mitomycin: 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.Shiga-Toxigenic Escherichia coli: 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.Fanconi Anemia Complementation Group F Protein: 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.Red-Cell Aplasia, Pure: Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.Bacterial Proteins: Proteins found in any species of bacterium.Fanconi Anemia Complementation Group E Protein: 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.Complement C4: 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.Purpura, Thrombocytopenic, Idiopathic: 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.Virulence: 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.Hemolysin Factors: Plasmids controlling the synthesis of hemolysin by bacteria.Isoantibodies: Antibodies from an individual that react with ISOANTIGENS of another individual of the same species.Parvovirus B19, Human: The type species of ERYTHROVIRUS and the etiological agent of ERYTHEMA INFECTIOSUM, a disease most commonly seen in school-age children.Folic Acid Deficiency: 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)Kidney Failure, Chronic: 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.Parvoviridae Infections: Virus infections caused by the PARVOVIRIDAE.Erythrocyte Deformability: Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.Exchange Transfusion, Whole Blood: 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.Homozygote: An individual in which both alleles at a given locus are identical.Immunoglobulin G: The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.Elliptocytosis, Hereditary: An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.Vitamin B 12: 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.Chronic Disease: 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)Bilirubin: A bile pigment that is a degradation product of HEME.Methyldopa: An alpha-2 adrenergic agonist that has both central and peripheral nervous system effects. Its primary clinical use is as an antihypertensive agent.Complement C3b Inactivator Proteins: 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.Fish Venoms: 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.Trihexosylceramides: 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).Haptoglobins: 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.Hydrops Fetalis: 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.Pedigree: 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.Blood Group Antigens: Sets of cell surface antigens located on BLOOD CELLS. They are usually membrane GLYCOPROTEINS or GLYCOLIPIDS that are antigenically distinguished by their carbohydrate moieties.Blood Proteins: Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins.Immunosuppressive Agents: 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.Hemagglutination: The aggregation of ERYTHROCYTES by AGGLUTININS, including antibodies, lectins, and viral proteins (HEMAGGLUTINATION, VIRAL).Melitten: 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.Anion Exchange Protein 1, Erythrocyte: 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.Antilymphocyte Serum: Serum containing GAMMA-GLOBULINS which are antibodies for lymphocyte ANTIGENS. It is used both as a test for HISTOCOMPATIBILITY and therapeutically in TRANSPLANTATION.Cucumaria: A genus of large SEA CUCUMBERS possessing the primitive radial configuration of podia in all five ambulacral areas.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Parasitemia: The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)Ferrous Compounds: Inorganic or organic compounds that contain divalent iron.Hematology: A subspecialty of internal medicine concerned with morphology, physiology, and pathology of the blood and blood-forming tissues.Diarrhea: 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.Sickle Cell Trait: The condition of being heterozygous for hemoglobin S.Hookworm Infections: 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.Receptors, Transferrin: 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.Toxins, Biological: Specific, characterizable, poisonous chemicals, often PROTEINS, with specific biological properties, including immunogenicity, produced by microbes, higher plants (PLANTS, TOXIC), or ANIMALS.Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Renal Dialysis: Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.Streptococcus: 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.Aeromonas: 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.Fatal Outcome: 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.Hemoglobin C Disease: 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.Phenacetin: 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)Complement C8: 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, Falciparum: 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.Methemoglobinemia: 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)Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Erythrocyte Volume: Volume of circulating ERYTHROCYTES . It is usually measured by RADIOISOTOPE DILUTION TECHNIQUE.Bone Marrow Transplantation: 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.Cnidarian Venoms: 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.Prospective Studies: 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.Intrinsic Factor: 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.Antigens, CD46: 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.Complement C3b: 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.Complement Inactivator Proteins: 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.

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 5.3.1.1) 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)

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, ...
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 ...
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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 ...
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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NIH Rare Diseases : 54 Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage. HE is generally not life-threatening ...
Mitapivat showed positive safety and efficacy outcomes in patients with pyruvate kinase deficiency who were not regularly receiving red cell transfusions.
Lux, S E.; Wolfe, L C.; Pease, B; Tomaselli, M B.; John, K M.; and Bernstein, S E., " Hemolytic anemias due to abnormalities in red cell spectrin: a brief review." (1981). Faculty Research 1980 - 1989. 159 ...
Spectrin alpha, erythrocytic 1 [ Mus musculus ] [§§; †, ‡] anchored to the cytoplasmic face of the plasma membrane via ankyrin, which binds to beta-spectrin and is anchored to the cytoplasmic face affecting the conversion of spectrin dimers to tetramers erythroid alpha- or beta-spectrin - Retrotransposon long terminal repeat 3 LTR alpha 1 and the 5 LTR alpha 2 gene sequence GATA factor, cDNA contributes one strand a single gene that encodes the alpha-subunit limiting the lateral mobility of overall membrane glycolytic enzymes (GE) or membrane glycoproteins available to significantly modulate hemoglobin (Hb) in erythroid cells, mediates the binding of the whole complex to a transmembrane protein ubiquitous neural band 3, (Slc4a1) performs the same functions as that of erythroid glycolytic multienzyme (GE) complexes on band 3 via mRNAs for (Ank1) erythroid ankyrin and the function of various isoforms. Band 3 deficiency is used to characterize the alpha-chain and the Actin binding in ...
Recombinant Spectrin alpha Chain, Brain (SPTAN1) Protein. Species: Human. Source: Escherichia coli (E. coli). Order product ABIN3008234.
TY - JOUR. T1 - PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis. AU - Moura, Pedro Luís. AU - Hawley, Bethan R. AU - Dobbe, Johannes G. G.. AU - Streekstra, Geert J.. AU - Rab, Minke A.E. AU - Bianchi, Paola. AU - van Wijk, Richard AU - Toye, Ash M. AU - Satchwell, Timothy. PY - 2019/10/17. Y1 - 2019/10/17. U2 - 10.3324/haematol.2019.231159. DO - 10.3324/haematol.2019.231159. M3 - Article (Academic Journal). C2 - 31624108. JO - Haematologica. JF - Haematologica. SN - 0390-6078. ER - ...
Lara had two healthy, big litters of kittens and Bertta one litter of three. They have never been sick in their life. They are both screened negatives for HCM and any other heart conditions, they are big, strong, good mothers, wonderful temperaments, they have multiple titles both in FIFE and TICA. Bertta is full adult whited. They were perfect breeding cats and still are perfect pets. And then came this. About 6 weeks ago I had never heard about PK-def, or didin´t know what it really is. Now I know more than I ever wanted ...
Thats really interesting, thanks for posting. Its especially interesting how it can be mistaken for FIP. I dont know if its just because I come into contact with more Bengal owners over time, but it does seem to me that FIP-like symptoms are being reported more regularly and I have been wondering if they are all FIP or not. Tragically it probably doesnt change the outcome for the poor owner but knowledge is vital for future generations ...
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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 ...
Anemia. *Placental hemorrhage. *Severe hemolytic disease. *Sepsis[7]. Pathophysiology[edit]. The exact pathologic mechanism for ... Congenital heart disease. *Fetal-maternal transfusion. *Dehydration. *Perinatal asphyxia. * ...
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 ...
"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 haemolysis and anaemia in infancy that gradually improves, evolving toward typical ...
It is a congenital disease that most often occurs with hemolytic anemia and manifests with jaundice. Most patients with TPI for ... It is characterized by hemolytic anemia and neurodegeneration, and is caused by anaerobic metabolic dysfunction. This ... Merkle S, Pretsch W (1993). "Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the ... and is associated with non-spherocytic haemolytic anaemia of variable severity. This disease is centered on the glucose-6- ...
... s are those occurring with sickle cell anemia, congenital hemolytic anemia, polycythemia vera, ...
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 ...
The complications are polyhydramnios, preterm labour, hemolytic anemia, fetal cardiomegaly, fetal thrombocytopenia, intra ... uterine growth retardation, preeclampsia, abruption of placenta and congenital anomalies. The origin of chorioangioma is from ...
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 ...
... hemolytic anemia, hepatosplenomegaly, and neutropenia. An immunologic mechanism to explain the link between glycosylation ... These distinctive neurologic features are suggestive of hypomyelination, as they resemble features of other congenital disorder ...
"Anemia of prematurity". Retrieved 2010-05-31. Aplastic anemia at Mount Sinai Hospital [1] at Mount Sinai Hospital "Hemolytic ... link) "Congenital dyserythropoietic anemia". Genetics Home Reference. U.S. National Library of Medicine, National Institutes of ... with some form of anemia as their primary diagnosis. A nutritional anemia is a type of anemia that can be directly attributed ... "Spur-cell hemolytic anemia in severe alcoholic cirrhosis". Journal of the American Society of Hematology. The American Society ...
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 ...
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 ...
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 a - Congenital b Congenital absence of the uterus and vagina Congenital adrenal hyperplasia Congenital adrenal ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ...
... 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 The classical cause of traumatic damage to the spleen is ... Rodak B, Fritsma, G and Doig, K. "Anemia in Children - October 15, 2001 - American Family Physician". Kruetzmann, S; Rosado, MM ... When the spleen bleeds following physical trauma Following spontaneous rupture For long-term treatment of congenital ...
... congenital MeSH C16.320.070.100 --- anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 --- anemia, sickle cell ... 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 ...
... hemolytic MeSH C15.378.071.141.125 --- anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 --- anemia, hemolytic, congenital ... anemia, hemolytic, congenital nonspherocytic MeSH C15.378.071.141.150.150 --- anemia, sickle cell MeSH C15.378.071.141.150.150. ... anemia, aplastic MeSH C15.378.190.196.080 --- anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 --- anemia, diamond- ... File "2006 MeSH Trees".) MeSH C15.378.071.085 --- anemia, aplastic MeSH C15.378.071.085.080 --- anemia, hypoplastic, congenital ...
Aplastic anemia Transfusion associated Pseudothrombocytopenia idiopathic thrombocytopenic purpura Gilbert's Syndrome Congenital ... Familial thrombocytopenia Chemotherapy Babesiosis Dengue Onyalai Thrombotic thrombocytopenic purpura HELLP syndrome Hemolytic- ... Elevated platelet concentration is thrombocytosis and is either congenital, reactive (to cytokines), or due to unregulated ... 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 ... Alloimmune hemolytic anemia Hemolytic disease of the newborn (HDN) Rh disease (Rh D) ABO hemolytic disease of the newborn Anti- ... 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 ...
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 ...
Elevated levels may indicate hemolytic anaemia (excessive breakdown of red blood cells RBC), overburdening of the liver, ... Low urine urobilinogen levels may result from congenital enzymatic jaundice (hyperbilirubinemia syndromes) or from treatment ...
Treatment of thrombotic thrombocytopenic purpura (TTP) is a medical emergency, since the associated hemolytic anemia and ... Hereditary syndromes Congenital amegakaryocytic thrombocytopenia Thrombocytopenia absent radius syndrome Fanconi anemia Bernard ... Vitamin B12 or folic acid deficiency Leukemia or myelodysplastic syndrome or aplastic anemia Decreased production of ... Immune thrombocytopenic purpura Thrombotic thrombocytopenic purpura Hemolytic-uremic syndrome Disseminated intravascular ...
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 ...
Anemia: Central venous hemoglobin , 13 g/dL or capillary hemoglobin , 14.5 g/dL in infant , 34 weeks and 0-28 days old Average ... Neonatal Anemia. Kirsten E. Crowley, MD June 2005. Definitions. ... Chronic hemolytic anemia or hemorrhagic anemia with increased ... Bone marrow aspiration for congenital hypoplastic or aplastic anemia. *TORCH: bone films, IgM levels, serologies, urine for CMV ... Fanconi Anemia Erica Antell -. what is fanconi anemia?. fanconi anemia is one of the inherited anemias that causes bone marrow ...
Anemia, Hemolytic, Congenital. *Anemia, Dyserythropoietic, Congenital. *Anemia, Hemolytic, Congenital Nonspherocytic. *Anemia, ... A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be ... Anemia, Hemolytic [C15.378.071.141]. *Anemia, Hemolytic, Congenital [C15.378.071.141.150]. *Hemoglobin C Disease [C15.378. ...
The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis ... BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders ...
... hereditary red cell morphological disorders such as congenital spherocytosis and elliptocytosis, and in certain Mediterranean ... Treatment of refractory autoimmune haemolytic anaemia with anti-CD20 (Rituximab). Br J Haematol2001;114:241-6. ... Haemolytic anaemia in early infancy is often a result of blood group incompatibility, ... A diagnosis of idiopathic autoimmune haemolytic anaemia was made, and the patient started on high dose methylprednisolone (5 mg ...
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia., Brian R Englum, Jennifer ... Splenectomy in Congenital Hemolytic Anemia Consortium, and Shawn D. St Peter ... Pharmacokinetics and bioequivalence of a liquid formulation of hydroxyurea in children with sickle cell anemia., Jeremie H. ...
"Hemolytic Anemia Gene Mutation Detection Reagents" , "Congenital Hemolytic Anemia Gene Mutation Detection Reagents" , "G6PD ... Mutations at this locus have been identified in patients with congenital hemolytic anemia caused by G6PD deficiency. ... Entry Terms : "Anemia Gene Mutation Detection Reagents" , " ...
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 hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... 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 Retrieved April 15, 2011 Shah A (November 2004). " ... Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane ...
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. ...
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 ...
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 ...
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 ...
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. ...
... 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 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. ...
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 ...
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), ...
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- ...
  • The thrombotic thrombocytopenic purpura and hemolytic uremic syndromes: overview of pathogenesis (Experience of The Oklahoma TTP-HUS Registry, 1989-2007). (medscape.com)
  • The prevalence of anemia increases with age and is 44.4 percent in men 85 years and older. (aafp.org)
  • 1 2 In this study, the prevalence of thromboembolic events was 3.3% among 421 patients with β-TM and 16.2% among 74 patients with β-TI, although 15.3% of these patients had predisposing congenital or acquired factors contributing to the hypercoagulability. (bloodjournal.org)
  • 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)
  • 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)
  • This issue of Hematology/Oncology Clinics of North America, guest edited by Dr. Robert Brodsky, is devoted to Complement-mediated Hemolytic Anemias. (ramex.com)
  • or a mixture of conditions producing microcytic and macrocytic anemias. (aafp.org)