Anemia, Hemolytic, Autoimmune
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
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)
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 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.
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.
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.
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
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.
Chicken anemia virus
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.
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
Pregnancy Complications, Hematologic
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.
Glucosephosphate Dehydrogenase Deficiency
Anemia, Refractory, with Excess of Blasts
Fanconi Anemia Complementation Group C Protein
Rh-Hr Blood-Group System
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
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).
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.
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).
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).
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.
Substances that are toxic to cells; they may be involved in immunity or may be contained in venoms. These are distinguished from CYTOSTATIC AGENTS in degree of effect. Some of them are used as CYTOTOXIC ANTIBIOTICS. The mechanism of action of many of these are as ALKYLATING AGENTS or MITOSIS MODULATORS.
Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.
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.
A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
Fanconi Anemia Complementation Group G Protein
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Blood Transfusion, Intrauterine
Amino Acid Sequence
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
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.
An aminoquinoline that is given by mouth to produce a radical cure and prevent relapse of vivax and ovale malarias following treatment with a blood schizontocide. It has also been used to prevent transmission of falciparum malaria by those returning to areas where there is a potential for re-introduction of malaria. Adverse effects include anemias and GI disturbances. (From Martindale, The Extra Pharmacopeia, 30th ed, p404)
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A glycoprotein that is central in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C3 can be cleaved into COMPLEMENT C3A and COMPLEMENT C3B, spontaneously at low level or by C3 CONVERTASE at high level. The smaller fragment C3a is an ANAPHYLATOXIN and mediator of local inflammatory process. The larger fragment C3b binds with C3 convertase to form C5 convertase.
A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane.
Shiga Toxin 2
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)
C5 plays a central role in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C5 is cleaved by C5 CONVERTASE into COMPLEMENT C5A and COMPLEMENT C5B. The smaller fragment C5a is an ANAPHYLATOXIN and mediator of inflammatory process. The major fragment C5b binds to the membrane initiating the spontaneous assembly of the late complement components, C5-C9, into the MEMBRANE ATTACK COMPLEX.
A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.
Shiga Toxin 1
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.
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.
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.
A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8)
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Shiga-Toxigenic Escherichia coli
Fanconi Anemia Complementation Group F Protein
Red-Cell Aplasia, Pure
Fanconi Anemia Complementation Group E Protein
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.
Parvovirus B19, Human
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.
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.
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.
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)
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.
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).
Blood Group Antigens
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.
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.
Hemoglobin C Disease
A 150-kDa serum glycoprotein composed of three subunits with each encoded by a different gene (C8A; C8B; and C8G). This heterotrimer contains a disulfide-linked C8alpha-C8gamma heterodimer and a noncovalently associated C8beta chain. C8 is the next component to bind the C5-7 complex forming C5b-8 that binds COMPLEMENT C9 and acts as a catalyst in the polymerization of C9.
Malaria caused by PLASMODIUM FALCIPARUM. This is the severest form of malaria and is associated with the highest levels of parasites in the blood. This disease is characterized by irregularly recurring febrile paroxysms that in extreme cases occur with acute cerebral, renal, or gastrointestinal manifestations.
The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)
Severity of Illness Index
Bone Marrow Transplantation
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 220.127.116.11) 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)
Clinical and Hematologic Benefits of Partial Splenectomy for Congenital Hemolytic Anemias in Children<...
TY - JOUR. T1 - Clinical and Hematologic Benefits of Partial Splenectomy for Congenital Hemolytic Anemias in Children. AU - Rice, Henry E.. AU - Oldham, Keith T.. AU - Hillery, Cheryl A.. AU - Skinner, Michael A.. AU - OHara, Sara M.. AU - Ware, Russell E.. PY - 2003/2. Y1 - 2003/2. N2 - Objective: To assess the role of partial splenectomy for symptomatic children with various congenital hemolytic anemias. Summary Background Data: The use of total splenectomy for symptomatic children with congenital hemolytic anemias is restricted by concern of postsplenectomy sepsis. A partial splenectomy is an alternative procedure, although its utility remains incompletely defined. Methods: This longitudinal cohort study followed 25 symptomatic children with various congenital anemias who underwent partial splenectomy. Sixteen children had hereditary spherocytosis (HS), and nine children had other erythrocyte disorders. Outcome measures were clinical and laboratory hemolysis, splenic phagocytic and immune ...
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia., Brian R Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M Heeney, C Jason Smithers, Rebeccah L Brown, Theodosia Kalfa, Jacob C Langer, Michaela Cada, Keith T Oldham, J Paul Scott, Mukta Sharma, Andrew M Davidoff, Kerri Nottage, Kathryn Bernabe, David B Wilson, Sanjeev Dutta, Bertil Glader, Shelley E Crary, Melvin S Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Henry E Rice, Splenectomy in Congenital Hemolytic Anemia Consortium, and Shawn D. St Peter. ...
Definition : Molecular assay reagents intended to identify mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene, located at chromosome Xq28, which encodes for the glucose-6-phosphate dehydrogenase enzyme. Mutations at this locus have been identified in patients with congenital hemolytic anemia caused by G6PD deficiency.. Entry Terms : Anemia Gene Mutation Detection Reagents , Hemolytic Anemia Gene Mutation Detection Reagents , Congenital Hemolytic Anemia Gene Mutation Detection Reagents , G6PD Gene Mutation Detection Reagents , Reagents, Molecular Assay, Gene Anomaly, Mutation, G6PD. UMDC code : 24435 ...
R-PK - R-type pyruvate kinase | AcronymAttic
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 with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate |...
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. ...
JCI - Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
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 ...
Chapter 433. Hemolytic Anemia | Rudolphs Pediatrics, 22e | AccessPediatrics | McGraw-Hill Medical
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 ...
Anemia, Hemolytic, Congenital Nonspherocytic | Semantic Scholar
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.
OpenEmory | Search Results
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 ...
Transfusion Therapy: Clinical Principles and Practice, 2nd Edition. | Anesthesiology | ASA Publications
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, ...
Reticulocytosis | Colorado PROFILES
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 ...
Hereditary spherocytosis | Semantic Scholar
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.
Metabolism Why Is It Bad] | Thepharmology
This chapter is focused on the effect of natural products in pure form or characterized phytoconstituents on particularly inhibition of hemoglobin polymerization.This summarized information will be benecial for further exploration of new therapeutics in the treatment arena of SCA.Millions of people around the world, especially children, have been affected by SCA. This global burden is a growing concern nowadays as the yearly increase of newborns with SCA is expected from around three to four lakhs between and. SCA, congenital hemolytic anemia, is caused by a single amino acid substitution. This shows the way for polymerization of deoxygenated sickle hemoglobin which is the crucial step in the molecular pathogenesis of SCA.This polymerization alters the RBC rheology by changing its surface property, membrane damage, and dehydration of RBC.Potassium chloride cotransport and calciumactivated potassium efux are generally involved during the process of RBC dehydration. During this process, shape of ...
Hereditary hemolytic anemia - Causes,Symptoms,Diagnosis,Treatment,Analysis,disease
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 ...
CiNii Articles - KAGEOKA Hiroshi
Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia:-Clinical and Biochemical Studies- （1981 ...
Mutagenetix > Incidental...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015 ...
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Precision Piezo Z-probe Now available.
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Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship | Haematologica
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 - Wikipedia
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 ...
Congenital dyserythropoietic anaemia type II (CDA‐II): chromosomal banding studies and adherent cell effects on erythroid...
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 ...
Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 <...
TY - JOUR. T1 - Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 . AU - Perrotta, Silverio. AU - Luzzatto, Lucio. AU - Carella, Massimo. AU - Iolascon, Achille. PY - 2003/10/1. Y1 - 2003/10/1. UR - http://www.scopus.com/inward/record.url?scp=0141705291&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0141705291&partnerID=8YFLogxK. U2 - 10.1182/blood-2003-07-2389. DO - 10.1182/blood-2003-07-2389. M3 - Article. C2 - 14504075. AN - SCOPUS:0141705291. VL - 102. SP - 2704. EP - 2705. JO - Blood. JF - Blood. SN - 0006-4971. IS - 7. ER - ...
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. - Radcliffe...
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
Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type | Annals of Internal Medicine | American...
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):  although hereditary, the anemia affects siblings rather than parents within a family;  the erythrocytes tend to be macrocytic, and spherocytes are absent;  the osmotic fragility of fresh native blood is not increased;  ...
Congenital dyserythropoietic anemia type III | Haematologica
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 - Wikipedia
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 Summary Report | CureHunter
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.
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
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 ...
Ultrastructural, cell culture and karyotype study of bone marrow in a patient with congenital dyserythropoietic anaemia (CDA)...
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 ...
List of variants studied for congenital dyserythropoietic anemia type 2 by OMIM - ClinVar Miner
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional. ...
Congenital dyserythropoietic anemia type IV - Wikidata
Stomatocytosis | definition of stomatocytosis by Medical dictionary
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?
Congenital dyserythropoietic anaemia: response to splenectomy and quantitation of ineffective erythropoiesis. | Journal of...
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<...
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 ...
Diagnostic approaches for inherited hemolytic anemia in the genetic era
Knowledge of RBC membrane structure is important because defects in its structure underlie multiple IHAs . The human RBC membrane consists of three basic components: a lipid bilayer, transmembrane linker proteins, and a two-dimensional spectrin-based cytoskeleton network . 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) . 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 Open Access Journals| OMICS International |Hematology-Thromboembolic-Diseases
Dyserythropoietic anemia is a condition that influences platelets and principally observed in males. Dyserythropoietic anemia is one of numerous sorts of i..
Piezo1 Ion Channels: An alternative to force | eLife
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, ...
Stomatocytosis and Anemia Caused by Hypophosphatemia - Hematology and Oncology - Merck Manuals Professional Edition
Learn about the causes, symptoms, diagnosis & treatment of Anemias Caused by Hemolysis from the Professional Version of the Merck Manuals.
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Search of: congenital dyserythropoietic anemia - Results on Map - ClinicalTrials.gov
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Congenital hemolytic anemia
... refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ... types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane Hereditary spherocytosis ...
List of OMIM disorder codes
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, ...
Genetic studies on Arabs
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 ...
April 1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family ... Haemolytic anaemia results. For as yet unknown reasons, the cells take on the shape of a cup, with a 'mouth-shaped' (stoma) ... Many patients with hemolytic anemia take folic acid (vitamin B9) since the greater turnover of cells consumes this vitamin. ... Phillips J, Henderson AC (September 2018). "Hemolytic Anemia: Evaluation and Differential Diagnosis". American Family Physician ...
Ham's test is occasionally positive in aplastic anemia. Ham, Thomas H. (1937). "Chronic Hemolytic Anemia with Paroxysmal ... indicates PNH or congenital dyserythropoietic anemia. This is now an obsolete test for diagnosing PNH due to its low ...
ISBN 9780781770231.[page needed] Seip, M (1999). "Pyrimidine-5'-nucleotidase deficiency--congenital hemolytic anemia with ... Severe megaloblastic anemia Hemolytic anemia Sickle-cell anemia Pyrimidine 5' nucleotidase deficiency Alcoholism ... Myelodysplastic syndromes Sideroblastic anemia Congenital dyserythropoietic anemia Primary myelofibrosis Leukemia ...
Hemolytic anemia usually develops. Pharmaceutical-grade beta carotene may be used in its treatment. A bone marrow transplant ... Individuals with congenital erythropoietic porphyria do not crave blood. The enzyme (hematin) necessary to alleviate symptoms ... Finally, and most important, the fact that vampire reports were literally rampant in the 18th century, and that congenital ... Blood transfusion is occasionally used to suppress innate heme production. The rarest is congenital ...
... sickle-cell disease and congenital dyserythropoietic anemia). Defective red cell metabolism (as in glucose-6-phosphate ... Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), ... Low-grade hemolytic anemia occurs in 70% of prosthetic heart valve recipients, and severe hemolytic anemia occurs in 3%. In ... In cold hemolytic anemia there is advantage in transfusing warmed blood. In severe immune-related hemolytic anemia, steroid ...
Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB (1975). "A congenital haemolytic anaemia with thermal sensitivity of the ... Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity ... Patients with HPP tend to experience severe hemolysis and anemia in infancy that gradually improves, evolving toward typical ...
Articles with short description, Short description matches Wikidata, Hereditary hemolytic anemias, Inborn errors of ... European Network for Rare and Congenital Anaemias. Archived from the original on August 8, 2020. Retrieved April 6, 2017. ( ... Hexokinase deficiency is an anemia-causing condition associated with inadequate hexokinase. Specifically, the HK1 isozyme is ...
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- ...
Hematology: acquired (autoimmune) hemolytic anemia, idiopathic thrombocytopenic purpura, secondary thrombocytopenia, ... erythroblastopenia, leukemia, lymphoma and congenital (erythroid) hypoplastic anemia. Pulmonary: aspiration pneumonitis, ... Endocrinology: congenital adrenal hyperplasia, hypercalcemia associated with cancer, nonsuppurative thyroiditis, and primary or ...
... s are those occurring with sickle cell anemia, congenital hemolytic anemia, polycythemia vera, ...
Musa Mirmammad oglu Abdullayev
... of the coagulation system and fibrinolytic activity of the blood in patients with congenital microspherocytic hemolytic anemia ... of the coagulation system and fibirinolytic activity of the blood in patients with congenital microspherical hemolytic anemia ...
His name is associated with the following disorders: "Minkowski-Chauffard disease": Congenital hemolytic anemia with ... with F. Ramon) Pathogénie de l'ictère congénital de l'adulte. La semaine médicale, Paris, 1907, 27: 25-29. Les ictères ... Pathogénie de l'ictere hémolytique congénital. Annales de médecine interne, Paris, 1914: 1-17. Anatole Chauffard @ Who Named It ...
... autoimmune hemolytic anemia, hemolysis secondary to drug toxicity, thalassemia minor, and congenital dyserythropoietic anemias ... If chronic hemolytic jaundice is diagnosed in a newborn, development of anemia and bilirubin cholelithiasis should be monitored ... "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14. Orf K, Cunnington ... Hemolytic causes associated with bilirubin overproduction are diverse and include disorders such as sickle cell anemia, ...
Autoimmune hemolytic anemia
... and laid the foundation for the clear distinction of autoimmune from congenital hemolytic anemia. A hemolytic ... Hemolytic anemia is the hemolytic state in which anemia is present, and bone marrow function is inferentially unable to ... AIHA can be classified as warm autoimmune hemolytic anemia or cold autoimmune hemolytic anemia, which includes cold agglutinin ... The National Cancer Institute considers "immunohemolytic anemia", "autoimmune hemolytic anemia", and "immune complex hemolytic ...
The complications are polyhydramnios, preterm labour, hemolytic anemia, fetal cardiomegaly, fetal thrombocytopenia, ... intrauterine growth retardation, preeclampsia, abruption of placenta and congenital anomalies. The origin of chorioangioma is ...
Aldolase A deficiency
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 ...
Entlebucher Mountain Dog
Hemolytic anemia also is known to occur. Progressive Retinal Atrophy (PRA) is also present in the breed. The ... Inbreeding due to the small foundation stock numbers has led to Entlebuchers suffering from congenital defects, the most common ...
Thalassemia and its resultant hemolytic anemia is another important cause of pathologic EMH. EMH has been observed in numerous ... other benign hematological disorders such as sickle cell anemia, hereditary spherocytosis, congenital dyserythroblastic anemia ...
... these patients likely present with additional abnormalities including hemolytic anemia, hepatosplenomegaly, and neutropenia. An ... These distinctive neurologic features are suggestive of hypomyelination, as they resemble features of other congenital disorder ...
Non-immune hydrops can also be unrelated to anemia, for example if a fetal tumor or congenital cystic adenomatoid malformation ... Rh disease is a hemolytic disease of newborns. Pregnant mothers do not always have the same blood type as their child. During ... Cytomegalovirus in mother Congenital pulmonary airway malformation (formerly called congenital cystic adenomatoid malformation ... Therapy for Fetal anemia caused by a parvovirus infection or fetomaternal hemorrhage is fetal blood sampling followed by ...
People from these regions have a greater tendency to develop hemolytic anemia (due to a congenital deficiency of erythrocytic ... Persons with glucose-6-phosphate dehydrogenase deficiency (G6PD) may develop hemolytic anemia from primaquine. Primaquine is ... resulting in hemolytic anemia. However, the WHO has recommended that a single dose of primaquine (0.25 mg/kg) is safe to give ... Hemolytic reactions (moderate to severe) may occur in individuals with G6PD deficiency and in individuals with a family or ...
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 ...
List of hematologic conditions
"Anemia of prematurity". Retrieved 2010-05-31. Aplastic anemia at Mount Sinai Hospital  at Mount Sinai Hospital "Hemolytic ... "Congenital dyserythropoietic anemia". Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health ... "Spur-cell hemolytic anemia in severe alcoholic cirrhosis". Blood. The American Society of Hematology. 101 (1): 3-4. January 1, ... "Autoimmune Hemolytic Anemia". The Merck Manuals: Online Medical Library. Merck Sharp and Dohme. Retrieved 25 March 2011. " ...
Laser diffraction analysis
... under changing osmotic stress or oxygen tension and is used in the diagnosis and follow up of congenital hemolytic anemias. ...
Hemolytic disease of the newborn
... acquired hemolytic anemia, congenital toxoplasma, congenital syphilis infection, congenital obstruction of the bile duct, and ... Hemolytic disease of the newborn (anti-Rhc) Hemolytic disease of the newborn (anti-RhE) Hemolytic disease of the newborn (ABO) ... Mitchell S, James A (April 1999). "Severe late anemia of hemolytic disease of the newborn". Paediatrics & Child Health. 4 (3): ... al-Alaiyan S, al Omran A (1999). "Late hyporegenerative anemia in neonates with rhesus hemolytic disease". Journal of Perinatal ...
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 (right atrial appendage isomerism). Spleens ... and autosplenectomy caused by sickle cell anemia. Other causes are radiation therapy involving the spleen, such as that used to ...
Donath-Landsteiner hemolytic anemia
Acute Donath-Landsteiner hemolytic anemia is linked to viral infections such as: Adenovirus Congenital syphilis Coxsackievirus ... induced hemolytic response inside vessels leading to anemia and, thus, a cold antibody autoimmune hemolytic anemias (CAAHA). In ... Cold autoimmune hemolytic anemia, Acquired hemolytic anemia, Transfusion medicine). ... Long-term mild hemolytic anemia has been reported for several children who were in the likelihood of recurrence on exposure to ...
List of diseases (C)
Congenital hemolytic anemia Congenital hepatic fibrosis Congenital hepatic porphyria Congenital herpes simplex Congenital ... Congenital skeletal disorder Congenital skin disorder Congenital spherocytic anemia Congenital spherocytic hemolytic anemia ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ... Congenital v Congenital toxoplasmosis Congenital unilateral pulmonary hypoplasia Congenital vagal hyperreflexivity Congenital ...
... autoimmune haemolytic anaemia, drug-induced hemolytic anemia, atypical hemolytic uremic syndrome (aHUS)), some genetic ... sickle-cell disease and congenital dyserythropoietic anemia) Defective red cell metabolism (as in glucose-6-phosphate ... Low-grade hemolytic anemia occurs in 70% of prosthetic heart valve recipients, and severe hemolytic anemia occurs in 3%. ... Lead poisoning or poisoning by arsine or stibine causes non-immune hemolytic anemia. Runners can develop hemolytic anemia due ...
List of ICD-9 codes 280-289: diseases of the blood and blood-forming organs
... hemolytic anemias 283.0 Autoimmune hemolytic anemias Warm autoimmune hemolytic anemia 283.1 Non-autoimmune hemolytic anemias ... 285.9 Anemia unspecified 286 Coagulation defects 286.0 Hemophilia A 286.1 Hemophilia B 286.2 Hemophilia C 286.3 Congenital ... anemia 285.1 Acute posthemorrhagic anemia 285.2 Anemia in chronic illness 285.21 Anemia in chronic kidney disease 285.22 Anemia ... 280 Iron deficiency anemias 280.0 Iron deficiency anemia secondary to blood loss (chronic) 280.1 Iron deficiency anemia ...
... hemolytic anemia), or infiltration (e.g., leukemia or storage disease, such as Gaucher's disease). The most common cause of ... Polysplenia is a congenital disease manifested by multiple small accessory spleens, rather than a single, full-sized, normal ... and reticulocyte and atypical lymphocyte counts to exclude hemolytic anemia and leukemia. Assessment of IgM antibodies to viral ... Asplenia refers to a non-functioning spleen, which may be congenital, or caused by traumatic injury, surgical resection ( ...
... (HS) is a congenital hemolytic disorder, wherein a genetic mutation coding for a structural membrane ... which leads to a shortage of erythrocytes resulting in hemolytic anemia. HS was first described in 1871, and is the most common ... Acute cases can threaten to cause hypoxia secondary to anemia and acute kernicterus through high blood levels of bilirubin, ... Hereditary spherocytosis is an erythrocytic disorder of that affects the following red cell membrane proteins in a congenital ...
Geeurickx M, Labarque V (September 2021). "A narrative review of the role of sirolimus in the treatment of congenital vascular ... It is particularly advantageous in patients with kidney transplants for hemolytic-uremic syndrome, as this disease is likely to ... anemia, arthralgia, and thrombocytopenia. The most common adverse reactions (≥20% occurrence, leading to an 11% treatment ... Sirolimus also shows promise in treating tuberous sclerosis complex (TSC), a congenital disorder that predisposes those ...
... hemolytic anemia, thrombosis, hepatitis, anaphylaxis, backache, aseptic meningitis, acute kidney injury, hypokalemic ... It is indicated for replacement therapy in adults and children in primary immunodeficiency syndromes such as: congenital ... August 2008). "Hemolytic transfusion reactions after administration of intravenous immune (gamma) globulin: a case series ... congenital acquired immune deficiency syndrome (AIDS) with recurrent bacterial infections. and for the immunomodulation in ...
... and severe anemia (hemolytic anemia). Organ failure may follow, including adult respiratory distress syndrome. Sepsis in people ... 2015). "Neutropenia in congenital and adult babesiosis". Am J Clin Pathol. 144 (1): 94-96. doi:10.1309/AJCP2PHH4HBVHZFS. PMID ... Hemolytic anemia, in which red blood cells are destroyed and removed from the blood, also develops. Chills, sweats, and ... When people do develop symptoms, the most common are fever and hemolytic anemia, symptoms that are similar to those of malaria ...
... suggests hemolytic jaundice as the underlying disease process. Urobilinogen will be greater than 2 units, as hemolytic anemia ... congenital hypothyroidism) Sepsis or other infectious causes Transient neonatal jaundice is one of the most common conditions ... Thalassemia Pyruvate kinase deficiency Glucose-6-phosphate dehydrogenase deficiency Microangiopathic hemolytic anemia Hemolytic ... "What causes jaundice in hemolytic anemia?". www.medscape.com. Retrieved 26 April 2022. "What Is Sickle Cell Disease?". National ...
Blood-hematologic disorder-hemolytic anemia (low red blood cell count), leukopenia (white blood cell count. 3.0.CO;2-F. PMID ... Buyon JP, Clancy RM (December 2003). "Maternal autoantibodies and congenital heart block: mediators, markers, and therapeutic ... Anemia is common in children with SLE and develops in about 50% of cases. Low platelet count and white blood cell count may be ... Fatigue in SLE is probably multifactorial and has been related to not only disease activity or complications such as anemia or ...
List of syndromes
... lipodystrophy Congenital insensitivity to pain Congenital myasthenic syndrome Congenital nephrotic syndrome Congenital rubella ... lysis syndrome Tumor necrosis factor receptor associated periodic syndrome Turner syndrome Twiddler's syndrome Twin Anemia- ... Ataxia-telangiectasia Athletic heart syndrome Athymhormic syndrome ATR-16 syndrome Atrophodermia vermiculata Atypical hemolytic ... syndrome Complex regional pain syndrome Computer vision syndrome Congenital bilateral perisylvian syndrome Congenital ...
Treatment of thrombotic thrombocytopenic purpura (TTP) is a medical emergency, since the associated hemolytic anemia and ... Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia and radioulnar synostosis CYCS-related ... Fanconi anemia Filaminopathies A FYB related thrombocytopenia Glanzmann's thrombasthenia GNE myopathy with congenital ... or aplastic anemia Decreased production of thrombopoietin by the liver in liver failure Sepsis, systemic viral or bacterial ...
Packed red blood cells
... aplastic anaemia, and other congenital bone marrow failure disorders". The Cochrane Database of Systematic Reviews. 2015 (10): ... This antibody is important because it is the most frequent cause of hemolytic disease of the newborn. Incompatible red blood ... RBCs are used to restore oxygen-carrying capacity in people with anemia due to trauma or other medical problems, and are by far ... The packed cells are typically used in anemia that is either causing symptoms or when the hemoglobin is less than usually 70-80 ...
It however should not be used in late pregnancy due to the potential risk of hemolytic anemia in the newborn. Newborns of women ... Goldberg, O; Moretti, M; Levy, A; Koren, G (February 2015). "Exposure to nitrofurantoin during early pregnancy and congenital ... so nitrofurantoin must not be used because it can cause haemolytic anaemia. For the same reason, nitrofurantoin should not be ... because of risk of intravascular hemolysis resulting in anemia. The most common side effects with nitrofurantoin are nausea, ...
PNH increases the risk of venous thrombosis but is also associated with hemolytic anemia (anemia resulting from destruction of ... Thrombophilia can be congenital or acquired. Congenital thrombophilia refers to inborn conditions (and usually hereditary, in ... the physiology of complement-related hemolytic anemia". Ann. Intern. Med. 148 (8): 587-95. CiteSeerX 10.1.1.668.4942. doi: ... Congenital deficiency of plasminogen, for instance, mainly causes eye symptoms and sometimes problems in other organs, but the ...
Ii antigen system
"Autoimmune hemolytic anemia: current knowledge and perspectives". Immunity & Ageing. 17 (1): 38. doi:10.1186/s12979-020-00208-7 ... The adult i phenotype is associated with congenital cataracts, most markedly in Japanese and Taiwanese people and least ... leading to anemia. Rarely, individuals have the i antigen on their red blood cells into adulthood, known as the adult i ... may have developed as an evolutionary mechanism to prevent ABO hemolytic disease of the fetus and newborn. Enhanced expression ...
List of ICD-9 codes 760-779: certain conditions originating in the perinatal period
776.3 Other transient neonatal disorders of coagulation 776.4 Polycythemia neonatorum 776.5 Congenital anemia 776.6 Anemia of ... due to isoimmunization 773.0 Hemolytic disease, RH isoimmunization 773.1 Hemolytic disease, ABO isoimmunization 774 Other ... specific to the perinatal period 771.0 Congenital rubella 771.1 Congenital cytomegalovirus infection 771.2 Other congenital ... of fetus or newborn 772.8 Other specified hemorrhage of fetus or newborn 772.9 Unspecified hemorrhage of newborn 773 Hemolytic ...
The mechanism of inhibition of 5'nucleotidase in lead poisoning may contribute to the hemolytic syndromes that occur in ... Possible role of pyrimidine 5′-nucleotidase in the pathogenesis of lead-induced anemia". The Journal of Clinical Investigation ... Such diseases include severe combined immuno-deficiency, Wiskott-Aldrich syndrome, congenital X-linked agammaglobulinemia, ... it is likely that inhibition of pyrimidine 5'nucleotidase may contribute to the hemolytic syndromes that occur in patients with ...
In addition to chronic and/or recurrent infections many autoimmune diseases including arthritis, autoimmune hemolytic anemia, ... Primary Immunodeficiency is also known as congenital immunodeficiencies. Many of these disorders are hereditary and are ... Various hormonal and metabolic disorders can also result in immune deficiency including anemia, hypothyroidism and ...
Hemolytic disease of the fetus and newborn can lead to varying degrees of fetal anemia, which can potentially have devastating ... Amniocentesis can be used to detect other congenital infections such as cytomegalovirus, hepatitis B, parvovirus B19, and ... It can result in anemia that can have consequences of varying severity. The procedure-related risk of fetomaternal hemorrhage ... Tissues obtained from amniotic cell lines show significant promise for patients with congenital diseases/malformations of the ...
Browsing EB118 by Subject "Anemia, Hemolytic, Congenital"
Browsing by Subject "Anemia, Hemolytic, Congenital"
Hereditary spherocytic anemia: MedlinePlus Medical Encyclopedia
Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. It leads to red blood ... It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (hemolytic anemia). ... National Organization for Rare Disorders -- rarediseases.org/rare-diseases/anemia-hereditary-spherocytic-hemolytic ... The anemia can vary from mild to severe. In severe cases the disorder may be found in early childhood. In mild cases it may go ...
MeSH | Anemia, Hemolytic, Congenital (D000745)
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Hematologic Diseases » Anemia » Anemia, Hemolytic » Anemia, Hemolytic, ... Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Anemia, ... Anemia, Dyserythropoietic, Congenital 1 approved drug Anemia, Hemolytic, Congenital Nonspherocytic Anemia, Sickle Cell 252 ...
Anemia, Hemolytic, Congenital Nonspherocytic | Profiles RNS
Anemia, Hemolytic, Congenital Nonspherocytic*Anemia, Hemolytic, Congenital Nonspherocytic. *Anemia, Hemolytic Congenital, ... Hemolytic, Congenital Nonspherocytic" by people in this website by year, and whether "Anemia, Hemolytic, Congenital ... Anemia, Hemolytic, Congenital Nonspherocytic [C15.378.071.141.150.100]. *Congenital, Hereditary, and Neonatal Diseases and ... Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there ...
Acute Anemia: Practice Essentials, Etiology, Clinical Presentation
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 (AIHA) may be life threatening. The disorder is seen in association ... Acute anemia due to congenital bleeding disorders. Treatment of von Willebrand disease is with desmopressin (DDAVP), ...
Anemia Workup: Approach Considerations, Investigation for Pathogenesis, Evaluation for Blood Loss
Anemia is strictly defined as a decrease in red blood cell (RBC) mass. The function of the RBC is to deliver oxygen from the ... Autoimmune hemolytic anemia Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) ... Congenital dyserythropoietic anemias - Demonstration of abnormalities of erythroid precursors in bone marrow aspirates, ... Autoimmune hemolytic anemia Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) ...
Current Trends Risks Associated with Human Parvovirus B19 Infection
... persons with chronic hemolytic anemias, 2) persons with congenital or acquired immunodeficiencies, and 3) pregnant women. Since ... PATIENT MANAGEMENT Patients with Chronic Hemolytic Anemia The exposed patient with chronic hemolytic anemia should be managed ... Patients at risk for TAC include those with chronic hemolytic anemias and those with anemias associated with acute or chronic ... Transient Aplastic Crisis and Severe Anemia B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic ...
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. | Profiles RNS
A Study of EPEG in Beta Thalassemia Patients - Full Text View - ClinicalTrials.gov
Lymphadenitis Clinical Presentation: History, Physical, Causes
Current Trends Risks Associated with Human Parvovirus B19 Infection
... persons with chronic hemolytic anemias, 2) persons with congenital or acquired immunodeficiencies, and 3) pregnant women. Since ... Patients with Chronic Hemolytic Anemia The exposed patient with chronic hemolytic anemia should be managed by alerting the ... Patients at risk for TAC include those with chronic hemolytic anemias and those with anemias associated with acute or chronic ... Transient Aplastic Crisis and Severe Anemia B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic ...
Current version of study NCT04983654 on ClinicalTrials.gov
Anemia, Sickle Cell. Ulcer. Pathologic Processes. Anemia, Hemolytic, Congenital. Anemia, Hemolytic. Anemia. Hematologic ... Ulcer Anemia Sickle Cell Disease Diagnostic Test: patients with limb ulcers Diagnostic Test: For patients without limb ulcers ... Sickled RBCs are very fragile and rigid, which lead patients to have severe anemia and to develop frequent and repeated painful ...
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2023 ICD-10-CM Diagnosis Code E72.09: Other disorders of amino-acid transport
JCM | August-1 2021 - Browse Articles
Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature by Irene Motta ... Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically ... Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically ... AIHA in congenital anemias may be challenging both from a diagnostic and a therapeutic point of view. A proper evaluation of ...
You searched for H - NORD (National Organization for Rare Disorders)
... congenital hemolytic anemia, congenital hemolytic jaundice, congenital spherocytic anemia, hereditary spherocytic hemolytic ... Hereditary Nonspherocytic Hemolytic Anemia. Also known as: congenital nonspherocytic hemolytic anemia, HNHA, NSA, NSHA. ... Also known as: congenital insensitivity to pain with anhidrosis (CIPA), familial dysautonomia, Type II, hereditary sensory ... anemia, HS, icterus (chronic familial), Minkowski-Chauffard syndrome, SPH2, spherocytic anemia, spherocytosis Hermansky Pudlak ...
Pediatric Plastic Surgery Department - Mitera
Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia | IntechOpen
We described hematological parameters in both non-hemolytic and hemolytic type of jaundice; a significant correlation of ... Unstable hemoglobins: congenital Heinz body hemolytic anemia. Drugs (vitamin K). Sepsis. Physiologic jaundice. Crigler-Najjar ... 2.6 Hemolytic jaundice. We have established a group of hemolytic jaundice according to the mechanism of the hyperbilirubinemia ... We described hematological parameters in both non-hemolytic and hemolytic type of jaundice; a significant correlation of ...
Aplastic crisis associated with parvovirus B19 in an adult with hereditary spherocytosis
In patients with a congenital hemolytic anemia, infection with this virus can cause an aplastic crisis. We describe such a ... In patients with a congenital hemolytic anemia, infection with this virus can cause an aplastic crisis. We describe such a ... acute red blood cell aplasia and infection with parvovirus B19 is well described in patients with hereditary hemolytic anemia, ... An infected fetus can have severe anemia, congestive heart failure, generalized edema (fetal hydrops) and even death. Most ...
Infected humans can develop mild pyrexia, hemolytic anemia, and icterus. Moreover, congenital infection via transplacental ... formerly Eperythrozoon ovis), an epierythrocytic agent of haemolytic anaemia in sheep and goats. Int J Syst Evol Microbiol 2004 ... formerly Eperythrozoon ovis), an epierythrocytic agent of haemolytic anaemia in sheep and goats. Int J Syst Evol Microbiol 2004 ... an epierythrocytic agent of haemolytic anaemia in sheep and goats. . Int J Syst Evol Microbiol. 2004. ;. 54. :. 365. -. 371. . ...
Role of Chronic Iron Overload in Multiple Disorders of Captive Black Rhinoceroses (Diceros bicornis) - AAZV 1999 - VIN
These include episodic hemolytic anemia; high susceptibility to Leptospira, Salmonella, mycobacteria, and fungal pneumonias; ... Eleven of the twelve highest values in group A (,10,000 ng/ml) occurred in kindreds of calves with congenital ... This group also had high incidences of primary hemolytic anemia and mucocutaneous ulcerative disease. Open symbols in Group B ... dying in captivity have frequently cited hemosiderosis as residual evidence of hemolytic anemia, a disorder of high morbidity ...
One severe case of congenital toxoplasmosis in China with good response to azithromycin | BMC Infectious Diseases | Full Text
Cases of congenital toxoplasmosis with severe jaundice early after birth combined with pancytopenia and splenomegaly are ... Infants with congenital toxoplasmosis require long-term follow-up, focusing on nervous system development and ophthalmology. ... Here, we report on a rare case of congenital toxoplasmosis presenting with severe jaundice and hemolysis early after birth ... In this case of congenital toxoplasmosis combined with severe jaundice, we treated the infant with two courses of azithromycin ...
2011 ICD-9-CM Diagnosis Code 285.9 : Anemia unspecified
congenital (spherocytic) (see also Spherocytosis) 282.0. *. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... nonspherocytic hemolytic - see Anemia, hemolytic, nonspherocytic. *. normocytic (infectional) (not due to blood loss) 285.9*. ... newborn (see also Disease, hemolytic) 773.2. *. due to isoimmunization (see also Disease, hemolytic) 773.2. ... anemia (due to):*blood loss:*acute (285.1. )*chronic or unspecified (280.0. )*iron deficiency (280.0. -280.9. ) ...
The AMEDEO Literature Guide
Pediatric Blood Disorders (Noncancer) | Doernbecher Children's Hospital | OHSU
We treat kids with hemophilia, thrombosis, sickle cell anemia and more. ... Anemia, including iron deficiency. *Congenital hemolytic anemia. *Hemolytic disease of the newborn ... Sickle cell anemia What is it?. Sickle cell anemia is the most common inherited blood disorder. It is caused by a mutation in ... Autoimmune hemolytic anemia (antibodies against red blood cells). *Evans syndrome (antibodies against both platelets and red ...
Congenital hemolytic anemia or jaundice.. Subject(s):. Icterus neonatal, hemolytic. In Note:. In Cyclop. Med. (Piersol-Bortz) ... Clinical consideration of splenic enlargement; unusual case of congenital hemolytic jaundice.. Subject(s):. Icterus neonatal, ... Congenital hemolytic anemia; splenectomy in a case simulating cholecystitis.. Subject(s):. Icterus neonatal, hemolytic. ... Congenital hemolytic anemia in infancy and childhood.. Subject(s):. Icterus neonatal, hemolytic. ...
Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency | Haematologica
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal ... Long-term survival and reversal of iron overload after marrow transplantation in dogs with congenital hemolytic anemia. Blood. ... Pyruvate kinase deficient hemolytic anemia in an Amish isolate. Am J Hum Genet. 1965; 17:1-8. PubMedGoogle Scholar ... Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow ...
Autoimmune hemolyNonspherocyticHemolysisAdrenal hyperplasiaG6PDSplenectomyAplasticSplenomegalyDeficiencySpherocytosisThalassemiaTypes of hemolytic anemiaDisordersChronic hemolytic anemiaJaundiceAbnormalitiesDiagnosisFetalDyserythropoietic AnemiaModerateDefectsAutosomalNormocyticTreatment of congenitalReticulocytosisEtiologyAbnormalSymptomsHemoglobinPlateletAcute or chronicOccursSevere anemiaIcterusExposed to oxidantFolateAtypical2016Bone MarrowInfancySyndromeWillebrandGenetic
- Autoimmune hemolytic anemia (AIHA) may be life threatening. (medscape.com)
- B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic anemias (e.g., sickle cell disease, hemoglobin SC disease, hereditary spherocytosis, alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). (cdc.gov)
- Corticosteroids are indicated in autoimmune hemolytic anemia (AIHA). (medscape.com)
- In autoimmune hemolytic anemia (AIHA), typing and cross-matching may be difficult. (medscape.com)
-   In approximately 1% of cases autoimmune hemolytic anemia and immune thrombocytic purpura coexist, which is a condition called Evans syndrome. (doctorbhatia.com)
- In older children, autoimmune hemolytic anemia may also manifest with symptoms that are similar to pyruvate kinase deficiency and, therefore, must be considered in the differential diagnosis. (medscape.com)
- Anemia, Hemolytic, Congenital Nonspherocytic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
- This graph shows the total number of publications written about "Anemia, Hemolytic, Congenital Nonspherocytic" by people in this website by year, and whether "Anemia, Hemolytic, Congenital Nonspherocytic" was a major or minor topic of these publications. (ouhsc.edu)
- Below are the most recent publications written about "Anemia, Hemolytic, Congenital Nonspherocytic" by people in Profiles. (ouhsc.edu)
- Other congenital hemolytic anemias of the nonspherocytic type, hemoglobinopathies, other enzyme deficiencies, and some thalassemic syndromes must also be differentiated from pyruvate kinase deficiency. (medscape.com)
- Acute anemia denotes a precipitous drop in the RBC population due to hemolysis or acute hemorrhage. (medscape.com)
- Here, we report on a rare case of congenital toxoplasmosis presenting with severe jaundice and hemolysis early after birth combined with pancytopenia and splenomegaly. (biomedcentral.com)
- Some biological therapies have shown unexpected effects related to hematotoxicity, such as thrombocytopenia, de novo immune hemolysis, or even the worsening of the previous anemia. (pediatriconcall.com)
- This paper aimed to evaluate the possible effect of omalizumab therapy, directed to the treatment of severe asthma, in a child with concomitant hereditary spherocytosis, and to ascertain any effects on hemolysis, given the underlying hemolytic anemia of the patient. (pediatriconcall.com)
- There are numerous types of hemolytic anemia, and treatment may differ depending on the type of hemolysis. (medscape.com)
- Dehydrated hereditary stomatocytosis (DHS) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. (unina.it)
- Glucose-6-phosphate dehydrogenase (G6PD) can either present as a chronic hemolytic anemia or as sporadic episodes of hemolysis related to oxidant stresses that may occur with certain medications, infections or certain foods such as fava beans. (cancertherapyadvisor.com)
- Both congenital and acquired stomatocytosis may be asymptomatic or cause hemolysis. (merckmanuals.com)
- In the newborn with jaundice and anemia, immune hemolysis (eg, ABO or Rh incompatibility) is easily identified. (medscape.com)
- For primary (Addison's disease) or secondary adrenocortical insufficiency or for the treatment of congenital adrenal hyperplasia. (pdr.net)
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase (PK) deficiency are the 2 most common enzyme defects that cause hemolytic anemia. (medscape.com)
- The severe hemolytic anemia in the patient was proven caused by G6PD deficiency. (balimedicaljournal.org)
- Surgery to remove the spleen ( splenectomy ) cures the anemia but does not correct the abnormal cell shape. (medlineplus.gov)
- Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. (childrensmercy.org)
- Splenectomy ameliorates anemia in some cases. (merckmanuals.com)
- Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy. (medscape.com)
- Patients with sickle cell anemia may have life-threatening complications during acute splenic sequestration and aplastic crisis. (medscape.com)
- Aplastic anemia. (medscape.com)
- This report* was developed to assist physicians, public health officials, and other health-care professionals respond to public concerns about recently recognized, serious complications of human parvovirus B19 (B19) infection, including transient aplastic crisis (TAC), chronic anemia, and fetal death. (cdc.gov)
- In the acute phase of the illness, patients usually have a moderate to severe anemia with absence f reticulocytes, and bone marrow examination shows a hypoplastic or an aplastic erythroid series with a normal myeloid series. (cdc.gov)
- In patients with a congenital hemolytic anemia, infection with this virus can cause an aplastic crisis. (nih.gov)
- Among those affected, the majority develop cancer , most often acute myelogenous leukemia (AML), and 90% develop aplastic anemia (the inability to produce blood cells) by age 40. (wikipedia.org)
- Cases of congenital toxoplasmosis with severe jaundice early after birth combined with pancytopenia and splenomegaly are extremely rare. (biomedcentral.com)
- 13 The PK mutant mice show moderate hemolytic anemia and marked splenomegaly. (haematologica.org)
- Clinical manifestations can range from mild to severe and include erythrodontia, reddish‐colored urine, and hemolytic anemia that can be mild or severe and may result in splenomegaly. (semanticscholar.org)
- Patients present with anemia and eventually develop pigment cholelithiasis, splenomegaly , and hemochromatosis with its complications. (symptoma.com)
- 4 Our patient had an early onset of anemia and splenomegaly (at birth) He had sideroblasts in the bone marrow with occasional ring forms, which is a rare finding in CDA. (symptoma.com)
- Background and Objectives Red blood cell pyruvate kinase (R-PK) deficiency is the most common glycolytic enzyme defect associated with hereditary non-spherocytic hemolytic anemia. (haematologica.org)
- Pyruvate kinase (PK) deficiency is the most common glycolytic enzyme defect associated with hemolytic anemia. (haematologica.org)
- 1 - 3 Although subjects with PK deficiency show a moderate degree of hemolytic anemia, the most severe cases die in utero 4 , 5 or are transfusion-dependent. (haematologica.org)
- We previously identified that hereditary hemolytic anemia spontaneously occurring in an inbred strain of CBA mice was due to PK deficiency. (haematologica.org)
- Pyruvate kinase deficiency is the most common glycolytic enzyme deficiency that leads to life-long hemolytic anemia. (cancertherapyadvisor.com)
- Pyrimidine 5′ nucleotidase deficiency presents with congenital hemolytic anemia because the residual nucleotides in young red cells (reticulocytes) cannot be metabolized and are presumed toxic. (cancertherapyadvisor.com)
- The list of conditions that cause hypoproliferative anemia is long, starting from common etiologies as iron deficiency to rarer diagnoses of constitutional bone marrow failure syndromes. (psichologyanswers.com)
- Hemodialysis to treat CKD may also lead to iron-deficiency anemia. (psichologyanswers.com)
- People with IBD may have both iron-deficiency anemia due to blood loss and anemia of inflammation. (psichologyanswers.com)
- A poor diet or certain intestinal diseases that affect how the body absorbs iron can also cause iron deficiency anemia. (psichologyanswers.com)
- They include:Iron deficiency anemia. (psichologyanswers.com)
- Vitamin deficiency anemia. (psichologyanswers.com)
- If left untreated, iron-deficiency anemia can cause serious health problems. (psichologyanswers.com)
- Iron-deficiency anemia develops slowly - your symptoms could be mild, or you may not even have any. (psichologyanswers.com)
- Iron deficiency anaemia occurs when there is a reduced number of red blood cells because the body does not have enough iron to produce them. (wellcarecentre.com)
- Effect of Iron Deficiency Anemia on Hba1c Levels in Controlled Plasma Glucose Levels. (aimdrjournal.com)
- 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. (ouhsc.edu)
- This association has also been described, although less frequently, in patients with other inherited hemolytic diseases, such as hereditary spherocytosis. (nih.gov)
- Hereditary spherocytosis is a common cause of hereditary anemia, with heterogeneous manifestations influenced by multiple factors, as exposure to drugs. (pediatriconcall.com)
- Hereditary spherocytosis is a congenital, non-immune, hemolytic anemia, characterized by modifications of the red cell membrane. (pediatriconcall.com)
- Distinguish hereditary spherocytosis from acquired spherocytic anemia using appropriate tests, and list the possible causes of the latter. (pdfslide.us)
- Patients with thalassemia major (homozygous for beta thalassemia) develop severe anemia that requires transfusion in the first year of life. (medscape.com)
- Other forms of thalassemia may cause acute anemia during periods of oxidative stress. (medscape.com)
- Iron overload due to multiple transfusions for chronic anemia (eg, thalassemia or sickle cell disorder) can be treated with chelation therapy. (medscape.com)
Types of hemolytic anemia1
- Diagnose the various types of hemolytic anemia according to the appearance of the peripheral blood film, and ancillary laboratory tests. (pdfslide.us)
- There is a general impression that additional studies should be carried out to establish the role and indications for EPO in hemolytic disorders. (medscape.com)
- In children, anemia is caused most often by disorders that result in smaller-than-normal RBCs ( microcytosis ) (Table 1). (symptoma.com)
Chronic hemolytic anemia1
- It can cause acute or chronic hemolytic anemia and hyperbilirubinemia. (balimedicaljournal.org)
- In this case of congenital toxoplasmosis combined with severe jaundice, we treated the infant with two courses of azithromycin, followed by trimethoprim-sulfamethoxazole after the jaundice resolved. (biomedcentral.com)
- Congenital hemolytic anemia or jaundice. (nih.gov)
- unusual case of congenital hemolytic jaundice. (nih.gov)
- Stomatocytosis (red blood cells with a transverse slit or stoma across the center) and hypophosphatemia cause red blood cell membrane abnormalities that can result in hemolytic anemia. (merckmanuals.com)
- Fetal surgeries are a range of medical interventions performed in utero on the developing fetus of a pregnant woman to treat a number of congenital abnormalities. (asu.edu)
- The first step in the diagnosis of anemia is detection with reliable, accurate tests so that important clues to underlying disease are not overlooked and patients are not subjected to unnecessary tests for and treatment of nonexistent anemia. (medscape.com)
- Those results confirmed the diagnosis as a B. microti in- College School of Basic Medicine, Beijing (H. Wang, C. Wei) fection causing severe intravascular hemolytic anemia. (cdc.gov)
- There were no other complications of tial diagnosis of immune hemolytic anemia with negative babesiosis, such as splenic infarction, acute respira- results for antiglobulin tests. (cdc.gov)
- After comprehensive analysis and examination, the final diagnosis was congenital toxoplasmosis, and the infant was treated with azithromycin and subsequently trimethoprim-sulfamethoxazole. (biomedcentral.com)
- Timely diagnosis and adequate treatment are closely associated with congenital toxoplasmosis-related prognosis. (biomedcentral.com)
- Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria. (semanticscholar.org)
- List the differential diagnosis of hemolytic anemia. (pdfslide.us)
- So, it is crucial to be aware during the diagnosis of hemolytic anemia at any age. (balimedicaljournal.org)
- This report is aimed to describe the diagnosis and treatment of a child who appears with acute hemolytic anemia due to favism. (balimedicaljournal.org)
- Fanconi Anemia (FA) is a rare multi- system genetic disorder that presents signs and The general diagnosis of FA is based on a symptoms including bone-marrow failure, somatic cytogenetic diagnosis by means of DiEpoxiButane malformations, pancytopenia, and a predisposition (DEB) and molecular genetic diagnosis. (bvsalud.org)
- B19 has also been associated with fetal death (both spontaneous abortions and stillbirths), acute arthralgias and arthritis, and chronic anemia in immunodeficient patients (5-14). (cdc.gov)
- An infected fetus can have severe anemia, congestive heart failure, generalized edema (fetal hydrops) and even death. (nih.gov)
- The first documented fetal surgical procedure occurred in 1963 in Auckland, New Zealand when A. William Liley treated fetal hemolytic anemia, or Rh disease, with a blood transfusion. (asu.edu)
- What is congenital Dyserythropoietic anemia? (psichologyanswers.com)
- Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. (psichologyanswers.com)
- How is congenital Dyserythropoietic anemia treated? (psichologyanswers.com)
- Congenital Dyserythropoietic Anemia (CDA) Type 2 is the most common and type 3 is the rarest. (psichologyanswers.com)
- B) Congenital dyserythropoietic anemia, bone marrow biopsy. (symptoma.com)
- there may be no clinical symptoms or the disease may produce a mild, moderate, or severe hemolytic anemia. (mayocliniclabs.com)
- Besides the muscle weakness, fatigue, and exercise intolerance, a moderate hemolytic anemia due to impaired red blood cell glycolysis is also noted. (cancertherapyadvisor.com)
- Hemolytic anemia due to various intrinsic defects of the erythrocyte. (liu.edu)
- Congenital stomatocytosis, which shows autosomal dominant inheritance, is rare. (merckmanuals.com)
- Fanconi anemia has an autosomal recessive pattern of inheritance. (wikipedia.org)
- Yes, anemia is normally classified as microcytic, normocytic or macrocytic (see next slide). (thebloodproject.com)
- Myelophthisic anemia is a normocytic, normochromic anemia that occurs when normal marrow space is infiltrated and replaced by nonhematopoietic or abnormal cells. (psichologyanswers.com)
Treatment of congenital1
- As in the case of all other Departments in MITERA Children's Hospital, the Department of Pediatric Plastic Surgery is characterized by a high degree of specialization in all fields of reconstructive procedures (ranging from the simplest technique to the most complicated microsurgical techniques) that allow personalized treatment of congenital (existing at birth) and acquired (due to trauma or neoplasia) conditions of soft tissues all over the body. (mitera.gr)
- Hemolytic anemia is associated with reticulocytosis, and increased reticulocytes may increase the mean cell volume (MCV). (thebloodproject.com)
- Often, the etiology of a patient's anemia can be determined if the red blood cells (RBCs) are altered in either size or shape or if they contain certain inclusion bodies. (medscape.com)
- Myelophthisic anemia is anemia characterized by the presence of immature erythrocytes in the peripheral blood due to the infiltration (crowding out) of the bone marrow by abnormal tissue. (psichologyanswers.com)
- Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty. (semanticscholar.org)
- Symptoms, if present, result mainly from the anemia. (merckmanuals.com)
- The proband was hemizygous for this mutation and presented with microcytic anemia and iron overload, while all 3 heterozygous females showed marginally increased red cell distribution width without any other symptoms. (symptoma.com)
- Anemia is characterized by a reduction in the number of circulating red blood cells (RBCs), the amount of hemoglobin, or the volume of packed red blood cells (hematocrit). (medscape.com)
- It is generally accepted that an acute drop in hemoglobin to a level of 7-8 g/dL is symptomatic, whereas levels of 4-5 g/dL may be tolerated in chronic anemia, as the body is able to gradually replace the loss of intravascular volume. (medscape.com)
- The World Health Organization (WHO) criterion for anemia in adults is a hemoglobin (Hb) value of less than 12.5 g/dL. (medscape.com)
- This has generally been viewed as an incidental finding and interpreted as evidence of previous hemolytic episodes in which premature destruction of red cells allows hemoglobin iron to accumulate in reticuloendothelial cells throughout the body. (vin.com)
- Mild anemia corresponds to a level of hemoglobin concentration of 10. (psichologyanswers.com)
- With anemia, the heart must work harder to make up for the lack of red blood cells or hemoglobin. (psichologyanswers.com)
- When red blood cell (RBC) glycolytic enzymes are deficient, a life-long non-spherocytic hemolytic anemia results and, in addition, platelet function can be impaired. (cancertherapyadvisor.com)
-  For example the BMJ review of the basics of hematology states: "The bleeding time may or may not be prolonged in congenital or acquired platelet dysfunction, and therefore a normal bleeding time does not exclude these conditions. (doctorbhatia.com)
- Because macrocytosis usually precedes a low platelet count , patients with typical congenital anomalies associated with FA should be evaluated for an elevated red blood cell mean corpuscular volume . (wikipedia.org)
Acute or chronic1
- Anemia is classified as acute or chronic. (medscape.com)
- Anemia occurs when there is a decrease in the number of red blood cells. (merckvetmanual.com)
- Acquired stomatocytosis with hemolytic anemia occurs primarily with recent excessive alcohol ingestion. (merckmanuals.com)
- Sickled RBCs are very fragile and rigid, which lead patients to have severe anemia and to develop frequent and repeated painful vaso-occlusive crises. (clinicaltrials.gov)
- Severe anemia is treated with a blood transfusion of red blood cells, no matter what the cause is. (psichologyanswers.com)
- He appeared icteric and with severe anemia. (balimedicaljournal.org)
- The association of congenital hemolytic icterus and gout. (nih.gov)
Exposed to oxidant1
- When cells are exposed to oxidant stress, a life-threatening hemolytic crisis ensues. (medscape.com)
- A broad range of factors can influence a worsening of the anemia, namely: infections, certain foods, deficiencies (vitamin B12, iron, folate) and oxidative drugs. (pediatriconcall.com)
- That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease. (asu.edu)
- Introduction: La mise en place depuis Septembre 2016 au Centre Hospitalier Universitaire (CHUL) d'une consultation d'hématologie dédiée aux adultes drépanocytaires a été l'occasion de mener cette étude dont le but principal était d'établir les profils clinique et paraclinique de l'adulte drépanocytaire régulièrement suivi.Patients et méthodes : Il s'agissait d'une étude rétrospective. (bvsalud.org)
- Bone marrow transplantation in congenital erythropoietic porphyria: Sustained efficacy but unexpected liver dysfunction. (semanticscholar.org)
- In a regenerative anemia , the bone marrow responds appropriately to the decreased number of red blood cells by increasing red blood cell production. (merckvetmanual.com)
- In a nonregenerative anemia , the bone marrow responds inadequately to the increased need for red blood cells. (merckvetmanual.com)
- Anemias that are caused by a decrease in the hormone that stimulates red blood cell production or an abnormality in the bone marrow are nonregenerative. (merckvetmanual.com)
- A complete blood count is a blood test your veterinarian will use to provide information on the severity of the anemia, the degree of bone marrow response, and the condition of other types of blood cells. (merckvetmanual.com)
- Hypoproliferative anemia results from the inability of bone marrow to produce adequate numbers of red blood cells. (psichologyanswers.com)
- Anemias associated with bone marrow disease. (psichologyanswers.com)
- Congenital hemolytic anemia in infancy and childhood. (nih.gov)
- Extensive, sometimes massive, involvement of both reticuloendothelial and parenchymal cells in multiple organs, indicated that this condition represents a true iron overload syndrome and could not result from hemolytic disease alone. (vin.com)
- [ 59 ] and in post-diarrheal hemolytic uremic syndrome. (medscape.com)
- Von Willebrand disease is the most common congenital bleeding disorder. (medscape.com)
- Fanconi anaemia ( FA ) is a rare genetic disease resulting in impaired response to DNA damage. (wikipedia.org)
-  Genetic counseling and genetic testing are recommended for families who may be carriers of Fanconi anemia. (wikipedia.org)