Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Hematology: A subspecialty of internal medicine concerned with morphology, physiology, and pathology of the blood and blood-forming tissues.Anemia, Sickle Cell: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.Hematologic Diseases: Disorders of the blood and blood forming tissues.Medical Oncology: A subspecialty of internal medicine concerned with the study of neoplasms.ScandinaviaIcelandSickle Cell Trait: The condition of being heterozygous for hemoglobin S.MinnesotaBlood Vessels: Any of the tubular vessels conveying the blood (arteries, arterioles, capillaries, venules, and veins).Hemoglobin, Sickle: An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.Chelation Therapy: Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.Iron Chelating Agents: Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.Deferoxamine: Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.Iron Overload: An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)Iron: A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.beta-Thalassemia: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.Blood Transfusion: The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)Pyridones: Pyridine derivatives with one or more keto groups on the ring.Benzoates: Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.Thalassemia: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.Anemia, Hemolytic, Autoimmune: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.Coombs Test: A test to detect non-agglutinating ANTIBODIES against ERYTHROCYTES by use of anti-antibodies (the Coombs' reagent.) The direct test is applied to freshly drawn blood to detect antibody bound to circulating red cells. The indirect test is applied to serum to detect the presence of antibodies that can bind to red blood cells.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Reticulocyte Count: The number of RETICULOCYTES per unit volume of BLOOD. The values are expressed as a percentage of the ERYTHROCYTE COUNT or in the form of an index ("corrected reticulocyte index"), which attempts to account for the number of circulating erythrocytes.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.Splenectomy: Surgical procedure involving either partial or entire removal of the spleen.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Anemia: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.Rh-Hr Blood-Group System: Erythrocyte isoantigens of the Rh (Rhesus) blood group system, the most complex of all human blood groups. The major antigen Rh or D is the most common cause of erythroblastosis fetalis.Spherocytosis, Hereditary: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Databases, Factual: Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.Spectrin: A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane.Spherocytes: Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.Clinical Coding: Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)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.Ankyrins: A family of membrane-associated proteins responsible for the attachment of the cytoskeleton. Erythrocyte-related isoforms of ankyrin attach the SPECTRIN cytoskeleton to a transmembrane protein (ANION EXCHANGE PROTEIN 1, ERYTHROCYTE) in the erythrocyte plasma membrane. Brain-related isoforms of ankyrin also exist.Osmotic Fragility: RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides see GLYCEROPHOSPHOLIPIDS) or sphingosine (SPHINGOLIPIDS). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system.Phospholipid Transfer Proteins: A ubiquitous family of proteins that transport PHOSPHOLIPIDS such as PHOSPHATIDYLINOSITOL and PHOSPHATIDYLCHOLINE between membranes. They play an important role in phospholipid metabolism during vesicular transport and SIGNAL TRANSDUCTION.Precursor Cells, B-Lymphoid: Lymphocyte progenitor cells that are restricted in their differentiation potential to the B lymphocyte lineage. The pro-B cell stage of B lymphocyte development precedes the pre-B cell stage.Cell Membrane: The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.Phosphatidylserines: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to a serine moiety. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid and serine and 2 moles of fatty acids.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.Bile Acids and Salts: Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.Pemphigus, Benign Familial: An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.B-Lymphocytes: Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation.Omeprazole: A 4-methoxy-3,5-dimethylpyridyl, 5-methoxybenzimidazole derivative of timoprazole that is used in the therapy of STOMACH ULCERS and ZOLLINGER-ELLISON SYNDROME. The drug inhibits an H(+)-K(+)-EXCHANGING ATPASE which is found in GASTRIC PARIETAL CELLS.Anti-Ulcer Agents: Various agents with different action mechanisms used to treat or ameliorate PEPTIC ULCER or irritation of the gastrointestinal tract. This has included ANTIBIOTICS to treat HELICOBACTER INFECTIONS; HISTAMINE H2 ANTAGONISTS to reduce GASTRIC ACID secretion; and ANTACIDS for symptomatic relief.Proton Pump Inhibitors: Compounds that inhibit H(+)-K(+)-EXCHANGING ATPASE. They are used as ANTI-ULCER AGENTS and sometimes in place of HISTAMINE H2 ANTAGONISTS for GASTROESOPHAGEAL REFLUX.Anemia, Aplastic: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.2-Pyridinylmethylsulfinylbenzimidazoles: Compounds that contain benzimidazole joined to a 2-methylpyridine via a sulfoxide linkage. Several of the compounds in this class are ANTI-ULCER AGENTS that act by inhibiting the POTASSIUM HYDROGEN ATPASE found in the PROTON PUMP of GASTRIC PARIETAL CELLS.Physician-Patient Relations: The interactions between physician and patient.Patient Satisfaction: The degree to which the individual regards the health care service or product or the manner in which it is delivered by the provider as useful, effective, or beneficial.Ranitidine: A non-imidazole blocker of those histamine receptors that mediate gastric secretion (H2 receptors). It is used to treat gastrointestinal ulcers.Elliptocytosis, Hereditary: An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.Anemia, Hemolytic, Congenital: Hemolytic anemia due to various intrinsic defects of the erythrocyte.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.

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

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

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

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

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

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

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

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

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

In a Hungarian family with triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate keto-isomerase, EC 5.3.1.1) deficiency, two germ-line identical, but phenotypically differing compound heterozygote brothers (one of them with neurological disorder) have been identified with the same very low (<5%) TPI activity and 20- or 40-fold higher erythrocyte dihydroxyacetone phosphate levels as compared with normal controls. Our present studies with purified TPI and hemolysates revealed the binding of TPI, and the binding of human wild-type and mutant TPIs in hemolysate, to the red cell membrane, and the interference of binding with other hemolysate proteins. The binding of the mutant TPI is enhanced as compared with the wild-type enzyme. The increased binding is influenced by both the altered structure of the mutant and the changes in the red cell membrane. Compared with binding of glyceraldehyde-3-phosphate dehydrogenase, the isomerase binding is much less sensitive to ionic strength or blocking of the N-terminal tail of the band-3 transmembrane protein. The binding of TPIs to the membrane decreases the isomerase activity, resulting in extremely high dihydroxyacetone phosphate levels in deficient cells. In cell-free brain extract, tubulin copolymerizes with TPI and with other cytosolic proteins forming highly decorated microtubules as shown by immunoblot analysis with anti-TPI antibody and by electron microscopic images. The efficacy order of TPI binding to microtubules is propositus > brother without neurological disorder > normal control. This distinct microcompartmentation of mutant proteins may be relevant in the development of the neurodegenerative process in TPI deficiency and in other, more common neurological diseases.  (+info)

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

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

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

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

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

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

*Autoimmune hemolytic anemia

... and laid the foundation for the clear distinction of autoimmune from congenital hemolytic anemia. A hemolytic state exists ... Hemolytic anemia is the hemolytic state in which anemia is present, and bone marrow function is inferentially unable to ... Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own ... AIHA is classified as either warm autoimmune hemolytic anemia or cold autoimmune hemolytic anemia, which includes cold ...

*Congenital hemolytic anemia

... (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011 Shah A (November 2004). " ... Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane ...

*Hereditary stomatocytosis

1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a ... The cell lyses and a haemolytic anaemia results. For as yet unknown reasons, the cells take on the shape of a cup, with a ' ... Many patients with haemolytic anaemia take folic acid (vitamin B9) since the greater turnover of cells consumes this vitamin. ... hereditary hyperphosphatidylcholine haemolytic anaemia) Dehydrated with perinatal ascites Cryohydrocytosis 'Blackburn' variant ...

*Hereditary pyropoikilocytosis

"A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane". Br J Haematol. 29 (4): 537-43. doi: ... Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity ... Patients with HPP tend to experience severe haemolysis and anaemia in infancy that gradually improves, evolving toward typical ...

*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 ...

*Hematopoietic ulcer

... s are those occurring with sickle cell anemia, congenital hemolytic anemia, polycythemia vera, ...

*Hemolytic disease of the newborn

Similar conditions include acquired hemolytic anemia, congenital toxoplasma and syphilis infection, congenital obstruction of ... Rhesus D hemolytic disease of the newborn (often called Rh disease) is the most common form of severe HDN. Rhesus c hemolytic ... Mitchell, S; James, A (1999). "Severe late anemia of hemolytic disease of the newborn". Paediatrics & child health. 4 (3): 201- ... Al-Alaiyan, S.; Al Omran, A. (1999). "Late hyporegenerative anemia in neonates with rhesus hemolytic disease". Journal of ...

*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 ...

*List of MeSH codes (C16)

... congenital MeSH C16.320.070.100 --- anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 --- anemia, sickle cell ... anemia, diamond-blackfan MeSH C16.320.077.280 --- fanconi anemia MeSH C16.320.099.037 --- activated protein c resistance MeSH ... congenital MeSH C16.131.621.551 --- klippel-feil syndrome MeSH C16.131.621.585 --- limb deformities, congenital MeSH C16.131. ... congenital MeSH C16.131.621.585.512 --- lower extremity deformities, congenital MeSH C16.131.621.585.600 --- polydactyly MeSH ...

*Isomerase

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- ...

*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, ...

*Splenectomy

... if severe hemolytic anemia develops The spread of gastric cancer to splenic tissue When using the splenic artery for kidney ... For long-term treatment of congenital pyruvate kinase (PK) deficiency The classical cause of traumatic damage to the spleen is ... Rodak B, Fritsma, G and Doig, K. "Anemia in Children - October 15, 2001 - American Family Physician". Kruetzmann, S; Rosado, MM ... When the spleen bleeds following physical trauma Following spontaneous rupture For long-term treatment of congenital ...

*Chorioangioma

The complications are polyhydramnios, preterm labour, hemolytic anemia, fetal cardiomegaly, fetal thrombocytopenia, intra ... uterine growth retardation, preeclampsia, abruption of placenta and congenital anomalies. The origin of chorioangioma is from ...

*Entlebucher Mountain Dog

Hemolytic anemia also is known to occur.[citation needed] Progressive Retinal Atrophy (PRA) is also present in the breed. The ... Inbreeding due to the small foundation stock numbers has led to Entlebuchers suffering from congenital defects, the most common ...

*Renal cortical necrosis

Congenital heart disease Fetal-maternal transfusion Dehydration Perinatal asphyxia Anemia Placental hemorrhage Severe hemolytic ...

*Corticosteroid

Gastroenterology Ulcerative colitis Crohn's disease Autoimmune hepatitis Hematology Lymphoma Leukemia Hemolytic anemia ... Hydrocortisone (cortisol) is typically used for replacement therapy, e.g. for adrenal insufficiency and congenital adrenal ...

*Hematologic disease

Iron deficiency anemia Megaloblastic anemia Vitamin B12 deficiency Pernicious anemia Folate deficiency Hemolytic anemias ( ... Genetic disorders of RBC membrane Hereditary spherocytosis Hereditary elliptocytosis Congenital dyserythropoietic anemia ... Alloimmune hemolytic anemia Hemolytic disease of the newborn (HDN) Rh disease (Rh D) ABO hemolytic disease of the newborn Anti- ... Autoimmune hemolytic anemia Warm antibody autoimmune hemolytic anemia Idiopathic Systemic lupus erythematosus (SLE) Evans' ...

*List of MeSH codes (C15)

... hemolytic MeSH C15.378.071.141.125 --- anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 --- anemia, hemolytic, congenital ... anemia, hemolytic, congenital nonspherocytic MeSH C15.378.071.141.150.150 --- anemia, sickle cell MeSH C15.378.071.141.150.150. ... anemia, aplastic MeSH C15.378.190.196.080 --- anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 --- anemia, diamond- ... File "2006 MeSH Trees".) MeSH C15.378.071.085 --- anemia, aplastic MeSH C15.378.071.085.080 --- anemia, hypoplastic, congenital ...

*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 a - Congenital b Congenital absence of the uterus and vagina Congenital adrenal hyperplasia Congenital adrenal ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ...

*PGM3 deficiency

... hemolytic anemia, hepatosplenomegaly, and neutropenia. An immunologic mechanism to explain the link between glycosylation ... These distinctive neurologic features are suggestive of hypomyelination, as they resemble features of other congenital disorder ...

*Ham test

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 ...

*Platelet

Aplastic anemia Transfusion associated Pseudothrombocytopenia idiopathic thrombocytopenic purpura Gilbert's Syndrome Congenital ... Familial thrombocytopenia Chemotherapy Babesiosis Dengue Onyalai Thrombotic thrombocytopenic purpura HELLP syndrome Hemolytic- ... Elevated platelet concentration is thrombocytosis and is either congenital, reactive (to cytokines), or due to unregulated ... acquired or congenital Disorders of aggregation Glanzmann's thrombasthenia Wiskott-Aldrich syndrome Acquired Disorders of ...

*Urobilinogen

Elevated levels may indicate hemolytic anaemia (excessive breakdown of red blood cells RBC), overburdening of the liver, ... Low urine urobilinogen levels may result from congenital enzymatic jaundice (hyperbilirubinemia syndromes) or from treatment ...

*Howell-Jolly body

Howell-Jolly bodies are also seen in: amyloidosis, severe hemolytic anemia, megaloblastic anemia, hereditary spherocytosis, and ... Common causes include asplenia (post-splenectomy) or congenital absence of spleen (Heterotaxy Syndrome with asplenia). Spleens ... and autosplenectomy caused by sickle cell anemia. Other causes are radiation therapy involving the spleen, such as that used to ...

*Tooth discoloration

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 ...

*Childbirth

Delayed clamping of the cord decreases the risk of anemia but may increase risk of jaundice. Clamping is followed by cutting of ... Abruptio placentae Chorioamnionitis Fetal compromise such as isoimmunization leading to hemolytic disease of the newborn or ... GBS infection prolonged labour or rupture of membranes Untreated sexually transmitted infections are associated with congenital ...
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 ...
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Hereditary hemolytic anemia, a dominantly transmitted disorder, has affected 12 family members spanning three generations. The concentration of adenosine triphosphate in the red cells was about half that of comparably reticulocyte-rich blood. Since adenosine deaminase and adenosine kinase compete for a common substrate, the greatly increased activity of the former may interfere with nucleotide salvage via the latter. ...
The 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 ...
Hemolysis is chronic and extra vascular in most inherited hemoglobinopathies1. Occurrence of acute hemolysis in congenital hemolytic anemia is rare. Increased ..
Purpose: The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD). Methods: The Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium registry collected hematologic outcomes of children with CHA undergoing TS or PS to 1 year after surgery. Using random effects mixed modeling, we evaluated the association of operative type with change in hemoglobin, reticulocyte counts, and bilirubin. We also compared laparoscopic to open splenectomy. Results: The analysis included 130 children, with 62.3% (n = 81) undergoing TS. For children with HS, all hematologic measures improved after TS, including a 4.1 g/dl increase in hemoglobin. Hematologic parameters also improved after PS, although the response was less robust (hemoglobin increase 2.4 g/dl, p , 0.001). For children with SCD, there was no change in hemoglobin. Laparoscopy was not associated with differences ...
The first chapter, by Dr. Dzik, is a real treat to read. Of special note is his critical analysis of the three common assumptions: (1) Abnormal results of commonly used laboratory tests such as prothrombin time, activated partial thromboplastin time, or platelet count have predictive value to identify which patients to treat; (2) blood components administered before procedures effectively correct hemostatic abnormalities; and (3) prophylactic transfusions preprocedure are of greater benefit than therapeutic transfusions after the procedure. The rest of the chapters in the first section provide a comprehensive overview of transfusion practices in common clinical conditions such as autoimmune hemolytic anemia, congenital hemolytic anemia, acquired hemolytic anemia, congenital coagulopathies, solid organ transplantation, hematopoietic stem cell transplantation, therapeutic apheresis, and the pediatric population. Although each of the distinguished authors adds his or her own flavor to the chapters, ...
Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia:-Clinical and Biochemical Studies- (1981 ...
... is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008 ...
Four alcoholic patients developed hemolysis of varying severity. Both hemolysis and stomatocytosis appeared to be directly related to alcohol abuse, and both gradually disappeared while the patients were under hospital supervision. At least one of these patients seemed to have an intracorpuscular red cell defect. A survey indicated that peripheral smears from a minority of acute alcoholics contain an excess number of stomatocytes. This is the first description of transient stomatocytosis associated with acute alcoholism. ...
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The Online Mendelian Inheritance in Man (OMIM) compendium of human genes and genetic phenotypes includes three types of congenital dyserythropoietic anemia as reported in Table 1. A comprehensive overview of these disorders has been published recently.1. Congenital dyserythropoietic anemia type II is the most common of these inherited disorders. Typical morphological abnormalities of this condition are shown in Figure 1: these abnormalities clearly indicate that incomplete cytokinesis is one of the key features of erythroid cells in this condition.. More than 30 years ago, we investigated the pathophysiology of anemia in patients with congenital dyserythropoietic anemia type II in studies of iron kinetics.2 A wide variation in effectiveness of erythroid activity was observed, and a significant inverse relationship was found between ineffective erythropoiesis and peripheral hemolysis. In 4 patients with prominent peripheral hemolysis, splenectomy was carried out. Marked improvement in their ...
Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS) is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test. CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated. An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and band 4.5 glycoproteins. The polylactosamines are, however, accumulated ...
CHAPTER 35 THE CONGENITAL DYSERYTHROPOIETIC ANEMIAS Williams Hematology CHAPTER 35 THE CONGENITAL DYSERYTHROPOIETIC ANEMIAS ERNEST BEUTLER Congenital Dyserythropoietic Anemia Type I Congenital Dyserythropoietic Anemia Type II (Hempas) Congenital Dyserythropoietic Anemia Type III Other Forms of Congenital Dyserythropoietic Anemia and Similar Disorders Enzyme Abnormalities in Congenital Dyserythropoietic Anemia Differential Diagnosis Chapter References The congenital dyserythropoietic anemias…
The non-spherocytic hemolytic anemias comprise a seemingly diverse group of diseases intrinsic to the red cell when they are contrasted with the better known congenital hemolytic anemias, such as hereditary spherocytosis. Knowledge of their inheritance, course, and pathogenesis is incomplete. Since initially defined by Dacie (1) in 1953 as "atypical congenital hemolytic anemia the general characteristics of this syndrome have been outlined (2, 3): [1] although hereditary, the anemia affects siblings rather than parents within a family; [2] the erythrocytes tend to be macrocytic, and spherocytes are absent; [3] the osmotic fragility of fresh native blood is not increased; [4] ...
BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia type III (CDA-III) is a group of very rare disorders characterized by similar bone marrow morphology. The clinical picture is characterized by hemolytic anemia and dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the clinical manifestations, laboratory findings, and management CDA-III. EVIDENCE AND INFORMATION SOURCES: The present review critically examines relevant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on CDA-III. STATE OF ART AND PERSPECTIVES: The clinical and laboratory manifestations of CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indicate genetic and phenotypic ...
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. The symptoms and signs of congenital dyserythropoietic anemia are consistent with: Tiredness (fatigue) Weakness Pale skin CDA may be transmitted by both parents autosomal recessively or dominantly and has four different subtypes, CDA Type I, CDA Type II, CDA Type III, and CDA Type IV . CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. More than 300 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the ...
Hereditary Spherocytosis: A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. To determine whether growth differentation factor 15 (GDF15) hyper-expression is associated with the ineffective erythropoiesis and iron-loading complications of CDA type I (CDA I), GDF15 levels and other markers of erythropoiesis and iron overload were studied in blood from 17 CDA I patients. Significantly higher levels of GDF15 were detected among the CDA I patients (10 239 +/- 3049 pg/mL) compared with healthy volunteers (269 +/- 238 pg/mL). In addition, GDF15 correlated significantly with several erythropoietic and iron parameters including Hepcidin-25, Ferritin, and Hepcidin-25/Ferritin ratios. These novel results suggest that CDA I patients express very high levels of serum GDF15, and that GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis ...
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Looking for online definition of stomatocytosis in the Medical Dictionary? stomatocytosis explanation free. What is stomatocytosis? Meaning of stomatocytosis medical term. What does stomatocytosis mean?
The clinical and haematological features of an unusual case of congenital dyserythropoietic anaemia are described. There was a pronounced haemolytic component to the anaemia, with a mean cell life of five days, and a remarkable response to splenectomy. Measurement of the incorporation of 15N glycine into the haem of circulating red cells and into bilirubin showed that haem turnover due to ineffective erythropoiesis was increased 45 times compared with a control group (11.63 mg/kg/day, NR = 0.26 + 0-10) and represented 51% of total erythroid haem turnover.. ...
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Nail Hypoplasia, Polychromasia in Peripheral Blood Smear, Sinus Opacification Symptom Checker: Possible causes include Congenital Dyserythropoietic Anemia Type 1, Chronic Sinusitis, Congenital Dyserythropoietic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The sickle cell anemia (SCA) is a hereditary hemolytic anemia. The polymerization of hemoglobin S (HbS) in the deoxygenated state in sickle cell disease (SCD) is the watershed event leading to vase- occlusion, factors that retard the transit time of sickle erythrocytes in the microcirculation and the cell s adhesive properties. The change in shape is responsible for the enhancing of adhesion in endothelial cells and vase occlusion impeding the blood flux to tissues (1) .The vascular occlusion is the result of a fall in oxygen tension in cells presenting a major density (2). The researches in electronic microscopy had been shown that the irreversible sickle cells does not have almost anything of polymerized hemoglobin and so still retains the sickle shape. The sickle shape occurs because the protein fixation in membrane cytoskeleton and they must not be responsible for the irreversibility shape of sickle cell. (3). these processes are dependent of sickle hemoglobin concentration. Thus, the ...
Knowledge of RBC membrane structure is important because defects in its structure underlie multiple IHAs [16]. The human RBC membrane consists of three basic components: a lipid bilayer, transmembrane linker proteins, and a two-dimensional spectrin-based cytoskeleton network [171819]. Connections of the two layers depend on different linker proteins with binding sites, respectively, for the cytoplasmic domains of the integral membrane proteins (band 3 and glycophorin C) embedded in the lipid bilayer and specific regions of spectrin proteins in the cytoskeleton (Fig. 1). RBC membranopathies are the result of qualitative abnormalities or quantitative deficiencies of the RBC cytoskeletal proteins and can be divided into those resulting from structural protein loss including HS, hereditary elliptocytosis (HE) and hereditary ovalocytosis and membrane transport dysfunction (hereditary stomatocytosis) (Fig. 2) [1620]. Defects that interrupt the vertical structure (spectrin-actin interaction) underlie ...
Anion exchanger 1 (AE1), also known as band 3 or SLC4A1, plays a key role in the removal of carbon dioxide from tissues by facilitating the exchange of chloride and bicarbonate across the plasma membrane of erythrocytes. An isoform of AE1 is also present in the kidney. Specific mutations in human AE1 cause several types of hereditary hemolytic anemias and/or distal renal tubular acidosis. Here we report the crystal structure of the band 3 anion exchanger domain (AE1CTD) at 3.5 angstroms. The structure is locked in an outward-facing open conformation by an inhibitor. Comparing this structure with a substrate-bound structure of the uracil transporter UraA in an inward-facing conformation allowed us to identify the anion-binding position in the AE1CTD, and to propose a possible transport mechanism that could explain why selected mutations lead to disease. ...
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 ...
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. - anemia, dyserythropoietic, congenital -
The resolution of PI piezo nanopositioning systems is not limited by friction or stiction. Specification as position noise with the E-503 piezo amplifier module or E-710 digital piezo controller.. * Dynamic Operating Current Coefficient (DOCC) of the linear axes in µA per hertz and µm. Electrical capacitance and DOCC of the rotational axes are based on differential X and Y motion, therefore not stated. Example P-558.ZCL: Sinusoidal operation with 10 µm at 10 Hz requires approximately 1.7 mA current.. Ask about custom designs!. ...
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Research proven purified, goat ployclonal GATA1 antibody. Useful for studying hematopoietic stem cells and systems development. GATA1 is also a marker for certain cancers, X-linked dyserythropoietic anemia, thrombocytopenia and downs syndrome. Designed for immunohistochemistry, western blotting and related applications.
Research proven mouse monoclonal GATA1 antibody. Useful for studying hematopoietic stem cells and systems development. GATA1 is also a marker for certain cancers, X-linked dyserythropoietic anemia, thrombocytopenia and downs syndrome. Designed for immunohistochemistry, western blotting and related applications.
Click on a [studies] link to search within your current results for studies in that region. Use the back button to return to this list and try another region ...
Invoking piezoelectricity of regenerated cellulose, Piezo Paper can be made from the cellulose EAPap by maximizing its piezoelec...
The research team - led by the University of Leeds - has found that a protein called Piezo1 in the lining of blood vessels is able to detect a change in blood flow during exercise.
NIH Rare Diseases : 54 Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage. HE is generally not life-threatening ...
Lux, S E.; Wolfe, L C.; Pease, B; Tomaselli, M B.; John, K M.; and Bernstein, S E., " Hemolytic anemias due to abnormalities in red cell spectrin: a brief review." (1981). Faculty Research 1980 - 1989. 159 ...
Spectrin alpha, erythrocytic 1 [ Mus musculus ] [§§; †, ‡] anchored to the cytoplasmic face of the plasma membrane via ankyrin, which binds to beta-spectrin and is anchored to the cytoplasmic face affecting the conversion of spectrin dimers to tetramers erythroid alpha- or beta-spectrin - Retrotransposon long terminal repeat 3 LTR alpha 1 and the 5 LTR alpha 2 gene sequence GATA factor, cDNA contributes one strand a single gene that encodes the alpha-subunit limiting the lateral mobility of overall membrane glycolytic enzymes (GE) or membrane glycoproteins available to significantly modulate hemoglobin (Hb) in erythroid cells, mediates the binding of the whole complex to a transmembrane protein ubiquitous neural band 3, (Slc4a1) performs the same functions as that of erythroid glycolytic multienzyme (GE) complexes on band 3 via mRNAs for (Ank1) erythroid ankyrin and the function of various isoforms. Band 3 deficiency is used to characterize the alpha-chain and the Actin binding in ...
Dyserythropoietic anemia congenital type 3 (KIF23) Test Cost INR 45000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Lara had two healthy, big litters of kittens and Bertta one litter of three. They have never been sick in their life. They are both screened negatives for HCM and any other heart conditions, they are big, strong, good mothers, wonderful temperaments, they have multiple titles both in FIFE and TICA. Bertta is full adult whited. They were perfect breeding cats and still are perfect pets. And then came this. About 6 weeks ago I had never heard about PK-def, or didin´t know what it really is. Now I know more than I ever wanted ...
Thats really interesting, thanks for posting. Its especially interesting how it can be mistaken for FIP. I dont know if its just because I come into contact with more Bengal owners over time, but it does seem to me that FIP-like symptoms are being reported more regularly and I have been wondering if they are all FIP or not. Tragically it probably doesnt change the outcome for the poor owner but knowledge is vital for future generations ...
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Morphologically, spectrin-like proteins appear to be related to spectrin, showing a flexible rod-like structure. They can bind actin but seem to differ in their calmodulin-binding activity. In nonerythroid tissues, spectrins, in association with some other proteins, may play an important role in membrane organization.
Summary GlobalDatas clinical trial report, Acquired (Autoimmune) Hemolytic Anemia Global Clinical Trials Review, H2, 2015″ provides an overview of Acquired (Autoimmune) Hemolytic Anemia clinical trials scenario. This report provides top line data relating to the clinical trials on Acquired (Autoimmune) Hemolytic Anemia. Report includes.... ...
Immune Mediated Hemolytic Anemia (IMHA) current information. Natural protocol for Immune Mediated Hemolytic Anemia by a Master Herbalist with The Pet Health and Nutrition Center...
Do You Have Warm-reacting-antibody Hemolytic Anemia? Join friendly people sharing true stories in the I Have Warm-reacting-antibody Hemolytic Anemia group. Find support forums, advice and chat with groups who share this life experience. A Warm-reacti...
View details of top hemolytic anemia hospitals in Gurgaon. Get guidance from medical experts to select best hemolytic anemia hospital in Gurgaon
Update of /cvsroot/sashimi/trans_proteomic_pipeline/fastar/spare/bm In directory sc8-pr-cvs8.sourceforge.net:/tmp/cvs-serv29173/trans_proteomic_pipeline/fastar/spare/bm Modified Files: bmchar1.hpp bmchar1_i.hpp bmchar1_p.hpp bmchar2.hpp bmchar2_i.hpp bmchar2_p.hpp bms.hpp bms1.hpp bms1_i.hpp bms1_p.hpp bmsh1-1.hpp bmsh1-1_i.hpp bmsh1-1_p.hpp bmsh1-2.hpp bmsh1-2_i.hpp bmsh1-2_p.hpp bmshnaiv.hpp bmshnaiv_i.hpp bmslfst1.cpp bmslfst1.hpp bmslfst1_i.hpp bmslfst1_p.hpp bmslfst2.cpp bmslfst2.hpp bmslfst2_i.hpp bmslfst2_p.hpp bmslnone.cpp bmslnone.hpp bmslnone_i.hpp bmslsfc.cpp bmslsfc.hpp bmslsfc_i.hpp bmslsfc_p.hpp pm-bm.hpp pm-bm_i.hpp pm-bm_p.hpp Log Message: modified the SPAREPARTS library code to use char * instead of std::string. This shallow copy should reduce max memory usage by about 2/3 (since it was formerly making 2 copies of everything during trie building due to the use of std::string). Index: bmslfst1.cpp =================================================================== RCS file: ...
Boost.Units - A C++ library for zero-overhead dimensional analysis and // unit/quantity manipulation and conversion // // Copyright (C) 2003-2008 Matthias Christian Schabel // Copyright (C) 2008 Steven Watanabe // // Distributed under the Boost Software License, Version 1.0. (See // accompanying file LICENSE_1_0.txt or copy at // http://www.boost.org/LICENSE_1_0.txt) #ifndef BOOST_UNITS_CODATA_PHYSICO_CHEMICAL_CONSTANTS_HPP #define BOOST_UNITS_CODATA_PHYSICO_CHEMICAL_CONSTANTS_HPP #include ,boost/units/pow.hpp, #include ,boost/units/static_constant.hpp, #include ,boost/units/systems/detail/constants.hpp, #include ,boost/units/systems/si/amount.hpp, #include ,boost/units/systems/si/area.hpp, #include ,boost/units/systems/si/electric_charge.hpp, #include ,boost/units/systems/si/energy.hpp, #include ,boost/units/systems/si/frequency.hpp, #include ,boost/units/systems/si/mass.hpp, #include ,boost/units/systems/si/power.hpp, #include ,boost/units/systems/si/solid_angle.hpp, #include ...
C) Copyright Ion Gaztanaga 2005-2009. Distributed under the Boost // Software License, Version 1.0. (See accompanying file // LICENSE_1_0.txt or copy at http://www.boost.org/LICENSE_1_0.txt) // // See http://www.boost.org/libs/interprocess for documentation. // ////////////////////////////////////////////////////////////////////////////// #ifndef BOOST_OFFSET_PTR_HPP #define BOOST_OFFSET_PTR_HPP #if (defined _MSC_VER) && (_MSC_VER ,= 1200) # pragma once #endif #include ,boost/interprocess/detail/config_begin.hpp, #include ,boost/interprocess/detail/workaround.hpp, #include ,boost/interprocess/interprocess_fwd.hpp, #include ,boost/interprocess/detail/utilities.hpp, #include ,boost/interprocess/detail/cast_tags.hpp, #include ,boost/interprocess/detail/mpl.hpp, #include ,boost/pointer_cast.hpp, #include ,boost/pointer_to_other.hpp, #include ,boost/assert.hpp, #include ,ostream, #include ,istream, #include ,iterator, #include ,boost/aligned_storage.hpp, #include ,boost/type_traits/alignment_of.hpp, ...
Anemia symptoms depend on the cause, and can vary from person to person, but symptoms and signs may include fatigue, pale skin, heart palpitations, shortness of breath, and dizziness. There are several different types of anemia. Treatment depends upon the type.
View messages from patients providing insights into their medical experiences with Anemia - Diet. Share in the message dialogue to help others and address questions on symptoms, diagnosis, and treatments, from MedicineNets doctors.
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Complete information for SPTA1 gene (Protein Coding), Spectrin Alpha, Erythrocytic 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information about Hemolytic Anemia, including signs and symptoms; conditions that suggest it; contributing risk factors; conditions suggested by it.
Findings could lead to new treatment approaches in pain, deafness and cardiac function. Scripps Research Institute scientists have identified two proteins with potential to be important targets for research into a wide range of health problems, including pain, deafness, and cardiac and kidney dysfunction.. The study was published in Science Express, the advanced, online edition of the journal Science, on September 2, 2010.. In the study, the Scripps Research scientists identify two proteins, which they named Piezo1 and Piezo2 from the Greek meaning "pressure," involved in the cellular response to mechanical stimulation.. "We are very excited about this finding," said Scripps Research Professor Ardem Patapoutian. "Piezo1 and Piezo2 could have a critical function in many biological systems and diseases. Scientists studying a variety of fields""pain and touch, hearing, sensing blood pressure, and so forth""have been hunting for these types of proteins for a long time.". "In general, our work ...
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Pyruvate kinase (PK) deficiency is the most common cause of congenital non-spherocytic chronic hemolytic anemia and is the result of an erythrocyte enzyme defect. It is an autosomal recessive condition caused by a deficiency of erythrocytic PK. Altho
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia. The proband was noted to have dyserythropoiesis and iron overload. After an extensive diagnostic evaluation that did not provide insight into the cause of the disease, whole-exome sequencing of multiple family members revealed the presence of a mutation in the X chromosomal gene ...
Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2. Long-term outcome is poor. This is the first report detailing the treatment of Majeed syndrome with biological agents and demonstrates clinical improvement with IL-1blockade ...
Hemoglobinopathies Associated with Unstable Hemoglobin. In: Lichtman MA, Kaushansky K, Prchal JT, Levi MM, Burns LJ, Armitage JO. Lichtman M.A., Kaushansky K, Prchal J.T., Levi M.M., Burns L.J., Armitage J.O. Eds. Marshall A. Lichtman, et al.eds. Williams Manual of Hematology, 9e New York, NY: McGraw-Hill; . http://hemonc.mhmedical.com/content.aspx?bookid=1889§ionid=137388048. Accessed January 22, 2018 ...
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. Native spectrin molecule is a tetramer composed of two antiparallel heterodimers joined head to head so that each end of the native molecule includes the C-terminus of the alpha subunit and the N-terminus of the beta subunit ...
A marked tissue-specific increase in erythrocyte adenosine deaminase (ADA) activity is associated with an autosomal dominantly inherited hemolytic anemia. We investigated the molecular basis of ADA overproduction by studying reticulocyte ADA mRNA from affected individuals. Analysis of proband reticulocyte ADA cDNA clones revealed normal sequence. RNase mapping demonstrated that the amount of ADA mRNA in affected reticulocytes was greater than the amount in normal B lymphoblasts, whereas ADA mRNA was undetectable in normal reticulocytes. The 5- and 3-untranslated regions of reticulocyte and B-lymphoblast ADA mRNAs from affected individuals were structurally indistinguishable from those of normal B lymphoblasts. Northern blot analysis performed under stringent hybridization and washing conditions confirmed a markedly increased amount of reticulocyte ADA mRNA in affected individuals as compared with controls. We conclude that the RBC-specific overexpression of ADA in this disorder occurs at the ...
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein ...
Thromboses are a serious complication in patients with sickle cell disease, paroxysmal nocturnal hemoglobinuria, beta-thalassemia major, or thalassemia intermedia. Despite prophylaxis, thrombotic events can continue and can result in severe physical or mental debilitation or death of the patient. The fact that thrombosis does not occur in all patients with hemolytic anemias suggests that multiple factors interact to cause the coagulation crisis. Genetic modifiers, associated diseases, nutritional status, infections, environment, and treatment modalities are variables implicated in thrombophilia. The complexity confounds attempts to identify single causative agents in humans with hemolytic anemias. In the past year, mutations in putative genetic modifiers of the coagulation response have been examined as risk factors in patients with a history of thromboses; red cell binding sites on endothelial cells have been identified; and mouse models of thrombogenesis that permit experimental
Looking for Heinz body, Heinz-Ehrlich body? Find out information about Heinz body, Heinz-Ehrlich body. 1. the entire physical structure of an animal or human being 2. the trunk or torso, not including the limbs, head, or tail 3. Maths a three-dimensional... Explanation of Heinz body, Heinz-Ehrlich body
Its possible to become overhydrated while exercising. This is known as hyponatremia and its caused by low sodium (salt) levels in the blood. It can occur if too much water is drunk over a short period of time.. Hyponatremia sometimes affects athletes whose blood sodium level is reduced through sweat and then diluted by drinking large amounts of water. Symptoms of hyponatremia include nausea, vomiting and headache. In serious cases, the brain can swell, causing confusion, seizures, coma and, in rare cases, death. ...
Hemolytic anemia occurs when the body does not have enough healthy red blood cells (RBCs). This is because the cells are destroyed too early. The body also does not make new RBCs fast enough to replace the ones that are destroyed. There are many types of hemolytic anemia.
It is hard to believe that America, a country with one of the highest standard living in the world having over 20 million people with the disease of anemia caused by unhealthy diet, and nutritional deficiency with protein and fat intake 30% more than any other country in the world. Most people understand that anemia is caused by iron deficiency in the bloodstream but in reality anemia is characterized by deficiency in the hemoglobin of the red blood cells diminishing the ability of the blood to transport oxygen to our cells and to removing carbon dioxide. In this article, we will discuss types of anemia ...
Bisa dibilang sejak kecil saya berteman dengan sariawan. Dalam 1 bulan mungkin hanya 10 hari saja tanpa sariawan. Saya sering menyebut ini sebagai "SerSan" alias Serangan Sariawan mengingat lesi yang ada menyerang di lebih dari 1 titik rongga mulut seperti bibir dalam bawah, lidah, gusi, bahkan tenggorokan. Sersan biasanya akan sembuh dalam waktu 7-14 hari namun akan datang kembali menyapa beberapa hari kemudian seperti kata incess Syahrini "Hempas, datang lagi, hempas, datang lagi.." ...
The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia.
... definition, an anemic condition characterized by the destruction of red blood cells: seen in some drug reactions and in certain infectious and hereditary disorders. See more.
Learn more about the causes, symptoms, complications, and treatments for hemolytic anemia, and how to participate in an NHLBI clinical trial.
Chinese herbs shop remedies for Hemolytic Anemia. Our Chinese herbal products are inexpensive, safe, effective and shipped within 24 hours of order approval.
Compare risks and benefits of common medications used for Hemolytic Anemia. Find the most popular drugs, view ratings, user reviews, and more...
Do You Have Anemia, Hemolytic, Acquired? Join friendly people sharing true stories in the I Have Anemia, Hemolytic, Acquired group. Find support forums, advice and chat with groups who share this life experience. Anemia, Hemolytic, Acquired anonymous...
This single temperature valve is for use with the Master-Trol Valve Controller. The 24VAC solenoid, soft closing valve features piezo touch activation and is provided with a stainless steel strainer and integral checkstop. The Piezo buttons have no moving parts and are touch activated. When the Piezo buttons are touched this closes the circuit and activates the controller which activates the valve. Valve conforms with the lead free requirements of NSF61, Section 9, 1997; Federal Public Law 111-380 and ADA requirements. Refer to EVS catalog sheets regarding Master-Trol options and technical data ...
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So I have MS, so what? There are so many more things going on. Besides there are a million MS bloggers out there, all of whom write a helluva lot better about the topic than do I [some are on the list below]. Id rather write about current events, entertainment, technology, geek toys and mood swings; they are usually much more fun ...
3773 Martin Skold 2012-01-19 [merge] Merge modified: mysql-test/suite/ndb/r/ndb_condition_pushdown.result mysql-test/suite/ndb/t/ndb_condition_pushdown.test sql/ha_ndbcluster_cond.cc storage/ndb/include/ndbapi/Ndb.hpp storage/ndb/include/ndbapi/NdbDictionary.hpp storage/ndb/include/ndbapi/NdbOperation.hpp storage/ndb/include/ndbapi/NdbScanOperation.hpp storage/ndb/include/transporter/TransporterRegistry.hpp storage/ndb/src/common/transporter/TransporterRegistry.cpp storage/ndb/src/kernel/blocks/dbdict/Dbdict.cpp storage/ndb/src/kernel/error/ErrorReporter.cpp storage/ndb/src/kernel/vm/Emulator.cpp storage/ndb/src/kernel/vm/Emulator.hpp 3772 Mauritz Sundell 2012-01-18 undo commit 3771 removed: storage/ndb/src/kernel/vm/CMakeLists.txt.rej storage/ndb/src/kernel/vm/CountingPool.cpp storage/ndb/src/kernel/vm/CountingPool.hpp storage/ndb/src/kernel/vm/PackPool.cpp storage/ndb/src/kernel/vm/PackPool.hpp storage/ndb/src/kernel/vm/PagePool.cpp storage/ndb/src/kernel/vm/PagePool.hpp modified: ...
Got a few questions: Shielded hookup lead or the wire you use to wire up a pickup job and wire pickups to jacks and what not is actually what? As i...
A new version of the Piezosystem jena ServiceTool 1.2 for digital piezo electronics has been released. The programme is used for the controlling of piezo-actuators by the digital amplifiers d-Drive and 30DV50 from piezosystem jena
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the bodys tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this ...
A deficiency in the enzyme Pyruvate Kinase impairs the red blood cells ability to metabolize, which in turn may cause anemia and other blood-related issues. Breeds more prone to this deficiency include the Abyssinian, Somali, and domestic shorthair cats. Learn more about the causes and treatment of this condition in cats on PetMD.com.
At least 18 mutations in the PGK1 gene have been found to cause phosphoglycerate kinase deficiency. In some affected individuals, this condition causes a shortage of red blood cells (chronic hemolytic anemia) with or without neurological symptoms. In others, the condition is characterized by muscle weakness and cramping.. Most PGK1 gene mutations change single protein building blocks (amino acids) in phosphoglycerate kinase. A few other types of mutations, including insertions and deletions of a small amount of DNA in the PGK1 gene, have also been reported. Studies suggest that PGK1 gene mutations reduce the activity of phosphoglycerate kinase, which disrupts normal energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types ...
Immune mediated hemolytic anemia (IMHA), also known as auto-immune mediated hemolytic anemia (AIHA), is a disease in which the bodys immune system, which is designed to attack and kill germs, attacks and kills the bodys own red blood cells. The attack begins when antibodies, which are molecules made by the immune system to target germs, instead attach to and target the animals own red blood cells for destruction. The red blood cells carry oxygen to the tissues, and the animal cannot survive without adequate oxygenation of the tissues. The causes of IMHA remain largely unknown. While some cases of IMHA may be associated with a triggering event (cancer, infection, and perhaps even vaccinations), these events do not explain why the immune system misdirects its arsenal of weapons against the animal it is meant to protect ...
A Disease characterized by chronic Hemolytic Anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for Hemoglobin S ...
Patients from two families with chronic hemolytic anemia have been studied. The erythrocytes are very fragile and appear microcytic with a great variety of shapes. Clinical evaluation failed to identify traditionally ...
Patients with an unstable Haemoglobinopathy may have a chronic or intermittent haemolytic anaemia, or may have increased susceptibility to the haemolytic effects of oxidant drugs. See Heinz body.. ...
Although Agios is involved in some relatively early stage work on pyruvate kinase deficiency -- a genetic disorder that affects red blood cells ability to carry oxygen -- its the companys oncology platform thats most exciting. Specifically, Agios work with IDH mutant inhibitors is what has me, and Wall Street, excited. Normal IDH enzymes help to generate energy for cells by breaking down nutrients; however, mutant IDH creates a molecule that fails to mature and tends to proliferate rapidly. Thus, Agios approach of inhibiting this mutant form of IDH (IDH1 and IDH2) is believed to have anti-cancer effects.. Agios work is so exciting it got the attention of Celgene (NASDAQ:CELG) years ago, with Celgene eventually licensing the rights to IDH2 mutant inhibitor AG-221, and IDH1 mutant inhibitor AG-120. At the American Society of Hematologys annual meeting in December, Agios announced that AG-221 generated an evaluable response in 37% of patients with relapsed or refractory acute myeloid ...
Looking for online definition of familial nonspherocytic anemia of Basenji dogs in the Medical Dictionary? familial nonspherocytic anemia of Basenji dogs explanation free. What is familial nonspherocytic anemia of Basenji dogs? Meaning of familial nonspherocytic anemia of Basenji dogs medical term. What does familial nonspherocytic anemia of Basenji dogs mean?
SUMMARY Hemolytic anemia is a prominent part of the clinical presentation of patients infected with organisms such as the Plasmodium sp., Babesia, and Bartonella, which directly invade the erythrocyte. Malaria is the most common cause of hemolytic anemia on a worldwide basis, and much has been learned about how the parasite enters the erythrocyte and the mechanism of anemia. Falciparum malaria, in particular, can cause severe and sometimes fatal hemolysis (blackwater fever). Other organisms cause hemolytic anemia by producing a hemolysin (e.g., Clostridium perfringens), by stimulating an immune response (e.g., Mycoplasma pneumoniae), by enhancing macrophage recognition and hemophagocytosis, or by as yet unknown mechanisms. The many different infections that have been associated with hemolytic anemia are tabulated and references to the original studies provided.. ...
2/3 of cell. Pale outer rim of hemoglobin. In hereditary spherocytosis, the RBCs are more sensitive to progressively hypotonic solutions and therefore, exhibit earlier hemolysis, resulting in a positive osmotic fragility test (Fig. 14). 8 Heinz bodies highlighted by methylene blue stain show up as dark blue inclusions in erythrocytes. 9 Mechanism of spherocyte formation in Heinz body anemia. mainly contributes to hemolytic anemia. Thus, splenectomy mitigates hemolysis. Hereditary Elliptocytosis Syndromes Hereditary elliptocytosis (HE) is a fairly common disorder with an estimated incidence of 1 in 2000 to 4000 individuals. 6). G6PD deficiency: This is the most common RBC enzyme deficiency affecting more than 400 million people. The incidence is highest in Africans, people of Mediterranean descent, and Southeast Asians. 2 A: A remarkable number of schistocytes are present in this patient with microangiopathic hemolytic anemia due to hemolytic uremic syndrome. Note the absence of platelets. B: In ...
Haemolytic anaemia is a form of anaemia caused by haemolysis. It may be either hereditary or acquired. Haemolytic anaemia that is hereditary may be due to defects in erythrocyte production, in hemoglobin production, or in erythrocyte metabolism. Acquired haemolytic anemia, in turn, may be due to immune related factors. Autoimmune haemolytic anaemia is an example of an acquired form of haemolytic anaemia. It occurs when the antibodies act against own red blood cells. These antibodies lyse the red blood cells. Thus, in a person with a severe automimmune haemolytic anaemia, the lifespan of red blood cells could be reduced into just few days from the normal 100-120 days.1 Autoimmune haemolytic anaemia may either be warm or cold depending on the characteristics of the autoantibodies involved. Warm (antibody) autoimmune haemolytic anaemia is more common than cold (antibody) autoimmune haemolytic anaemia. 2 ...
The condition is usually mild, however in certain risk groups it may have a serious consequence. In women that are pregnant, infection inside the first trimester continues to be associated with hydrops fetal is, which in turn causes spontaneous abortion. In individuals with Sickle-cell disease or any other types of chronic hemolytic anemia, infection can possibly precipitate an aplastic crisis.. All ages could be affected even though it is most typical in youngsters whore aged five to 14 years. When their adult years is arrived at about 50 % the populace may have become safe from the next infection at some point or another within their past. Outbreaks can arise mainly in the nurseries and schools too.. Erythema infectiosum is generally a benign self-limited disease and does not really need treatment. In patients with arthralgia or pruritus symptomatic treatment methods are only possible with NSAIDs, antihistamines as well as topical antipruritics.. Parvovirus B19 infection could cause a really ...

Severe congenital hemolytic anemia caused by a novel compoun... : Chinese Medical JournalSevere congenital hemolytic anemia caused by a novel compoun... : Chinese Medical Journal

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. Liu, Peng-Peng1 ... How to cite this article: Liu PP, Ding HQ, Huang SZ, Yang SY, Liu T. Severe congenital hemolytic anemia caused by a novel ... Home , January 5, 2019 - Volume 132 - Issue 1 , Severe congenital hemolytic anemia caused by a novel compoun... ... Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy ...
more infohttps://journals.lww.com/cmj/Fulltext/2019/01050/Severe_congenital_hemolytic_anemia_caused_by_a.14.aspx

Congenital hemolytic anemia - WikipediaCongenital hemolytic anemia - Wikipedia

Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011 Shah A (November 2004). " ... Basically classified by causative mechanism, types of congenital hemolytic anemia include: Genetic conditions of RBC Membrane ...
more infohttps://en.wikipedia.org/wiki/Congenital_hemolytic_anemia

congenital nonspherocytic hemolytic anemia Disease Ontology Browser - DOID:2861congenital nonspherocytic hemolytic anemia Disease Ontology Browser - DOID:2861

congenital nonspherocytic hemolytic anemia (DOID:2861) Alliance: disease page Synonyms: hereditary nonspherocytic hemolytic ... Human Disease Modeled: congenital nonspherocytic hemolytic anemia. Associated Mouse Gene: Gpi1 Allelic Composition. Genetic ... anemia; HNSHA Alt IDs: OMIM:206300, OMIM:206400, OMIM:300908, OMIM:613470, MESH:D000746, ORDO:712, UMLS_CUI:C0002882 ...
more infohttp://www.informatics.jax.org/disease/OMIM:206400

congenital nonspherocytic hemolytic anemia Disease Ontology Browser - DOID:2861congenital nonspherocytic hemolytic anemia Disease Ontology Browser - DOID:2861

congenital nonspherocytic hemolytic anemia (DOID:2861) Alliance: disease page Synonyms: hereditary nonspherocytic hemolytic ... Human Disease Modeled: congenital nonspherocytic hemolytic anemia. Associated Mouse Gene: Gpi1 Allelic Composition. Genetic ... anemia; HNSHA Alt IDs: OMIM:206300, OMIM:206400, OMIM:300908, OMIM:613470, MESH:D000746, ORDO:712, UMLS_CUI:C0002882 ...
more infohttp://www.informatics.jax.org/disease/OMIM:300908

JCI -
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemiaJCI - 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 ... facilitating diagnosis and treatment of severe anemia and identifying a new target for therapeutic manipulation. ...
more infohttps://roofiris.net.insight.mobile.jci.org/articles/view/127195/pdf

Congenital Nonspherocytic Hemolytic Anemia & Pediatric Disorder<...Congenital Nonspherocytic Hemolytic Anemia & Pediatric Disorder<...

Congenital Hemolytic Anemia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your ... Congenital Nonspherocytic Hemolytic Anemia & Pediatric Disorder Symptom Checker: Possible causes include Hereditary ... Hemolytic Congenital, Nonspherocytic Anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal ... This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ...
more infohttps://www.symptoma.com/en/ddx/congenital-nonspherocytic-hemolytic-anemia+pediatric-disorder

C0002881 - A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or...C0002881 - A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or...

A form of hemolytic anemia with congenital onset. [HPO:probinson]. NCI Thesaurus A congenital hemolytic anemia caused by ... Congenital hemolytic anemia, NOS. English. SNOMED Intl DC-10107 L0002881. preferred. S0845259. Y. Congenital haemolytic anaemia ... Congenital hemolytic anemia (disorder). English. SNOMEDCT_US 38911009 L2822880. no. S3350063. Y. Hereditary hemolytic anemia ( ... congenital hemolytic anemia. English. (CPTSP) CRISP Thesaurus 0427-1351 L0002881. preferred. S0416932. N. congenital hemolytic ...
more infohttp://doctor.am/glossary/index-umls.php?C0002881

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal...Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal...

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal ... Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal ... Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia. BlutSeptember ... Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia. BlutSeptember ...
more infohttps://www.meta.org/papers/congenital-haemolytic-anaemia-resulting-from/469896

IDA | definition of IDA by Medical dictionaryIDA | definition of IDA by Medical dictionary

anemia of chronic inflammation. Inflammatory anemia.. congenital hemolytic anemia. Any of a group of inherited chronic diseases ... congenital hypoplastic anemia. Diamond-Blackfan anemia.. Cooley anemia. See: Cooley anemia. deficiency anemia. Anemia due to ... Synonym: nutritional anemia. Diamond-Blackfan anemia. See: Diamond-Blackfan anemia. erythroblastic anemia. Anemia resulting ... Other such anemias include congenital elliptocytosis, hereditary stomatocytosis, and hemolytic anemias caused by enzymatic ...
more infohttps://medical-dictionary.thefreedictionary.com/IDA

Idhi | definition of Idhi by Medical dictionaryIdhi | definition of Idhi by Medical dictionary

anemia of chronic inflammation. Inflammatory anemia.. congenital hemolytic anemia. Any of a group of inherited chronic diseases ... congenital hypoplastic anemia. Diamond-Blackfan anemia.. Cooley anemia. See: Cooley anemia. deficiency anemia. Anemia due to ... Synonym: nutritional anemia. Diamond-Blackfan anemia. See: Diamond-Blackfan anemia. erythroblastic anemia. Anemia resulting ... Other such anemias include congenital elliptocytosis, hereditary stomatocytosis, and hemolytic anemias caused by enzymatic ...
more infohttp://medical-dictionary.thefreedictionary.com/Idhi

Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital...Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital...

Anemia, Hemolytic, Congenital. Anemia, Hemolytic. Hemoglobinopathies. Genetic Diseases, Inborn. Cyclophosphamide. Sirolimus. ... Our ongoing protocol for patients with severe congenital anemias, particularly sickle cell disease (SCD), and an HLA-matched ... Anemia. Graft vs Host Disease. Anemia, Sickle Cell. Thalassemia. beta-Thalassemia. Hematologic Diseases. Immune System Diseases ... is capable of curing some congenital anemias. BMT usually involves high-intensity treatment with chemotherapy and radiation to ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00977691?term=Thalassemias&recr=Open&fund=01&rank=2

Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital...Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital...

Anemia. Anemia, Sickle Cell. Thalassemia. beta-Thalassemia. Hematologic Diseases. Anemia, Hemolytic, Congenital. Anemia, ... Our ongoing protocol for patients with severe congenital anemias, particularly sickle cell disease (SCD), and an HLA-matched ... is capable of curing some congenital anemias. BMT usually involves high-intensity treatment with chemotherapy and radiation to ... People with anemias often have damage to other organs such as the kidneys, which can be further damaged by the chemotherapy. ...
more infohttps://www.clinicaltrials.gov/ct2/show/NCT00977691

Hemolytic Anemia in Dogs | PetCareRxHemolytic Anemia in Dogs | PetCareRx

Find out all about this type of anemia and what treatment options a… ... Hemolytic anemia is a form of anemia that speeds up the natural process of red blood cells. ... Congenital Hemolytic Anemia. There are at least two genetic problems that cause enzyme deficiencies which destroy red blood ... Hemolytic Anemia at a glance. *1There are several types of hemolytic anemia in dogs. ...
more infohttps://www.petcarerx.com/article/hemolytic-anemia-in-dogs/1627

Stomatocytosis | Define Stomatocytosis at Dictionary.comStomatocytosis | Define Stomatocytosis at Dictionary.com

It causes congenital hemolytic anemia.. The American Heritage® Stedmans Medical Dictionary. Copyright © 2002, 2001, 1995 by ...
more infohttp://www.dictionary.com/browse/stomatocytosis

Concise Guide to Hematology, Book by Alvin H. Schmaier (Hardcover) | chapters.indigo.caConcise Guide to Hematology, Book by Alvin H. Schmaier (Hardcover) | chapters.indigo.ca

7 Congenital Hemolytic Anemia, 62. Archana M. Agarwal and Josef T. Prchal ... 11 Congenital Bleeding Disorder, 112. Anjali A. Sharathkumar and Steven W. Pipe ...
more infohttps://www.chapters.indigo.ca/en-ca/books/concise-guide-to-hematology/9781405196666-item.html

Suzie A. Noronha, M.D. -  University of Rochester Medical CenterSuzie A. Noronha, M.D. - University of Rochester Medical Center

"Acquired and Congenital Hemolytic Anemia." Pediatrics in review. 2016 Jun 0; 37(6):235-46. ...
more infohttps://www.urmc.rochester.edu/people/28191179-suzie-a-noronha/researchers

Study of Propranolol as Anti-Adhesive Therapy in Sickle Cell Disease (SCD) - Full Text View - ClinicalTrials.govStudy of Propranolol as Anti-Adhesive Therapy in Sickle Cell Disease (SCD) - Full Text View - ClinicalTrials.gov

Anemia, Sickle Cell. Anemia, Hemolytic, Congenital. Anemia, Hemolytic. Anemia. Hematologic Diseases. Hemoglobinopathies. ...
more infohttps://www.clinicaltrials.gov/ct2/show/NCT01077921?term=PROPRANOLOL&

A Study of SHP655 (rADAMTS13) in Sickle Cell Disease - Full Text View - ClinicalTrials.govA Study of SHP655 (rADAMTS13) in Sickle Cell Disease - Full Text View - ClinicalTrials.gov

Anemia, Sickle Cell. Anemia, Hemolytic, Congenital. Anemia, Hemolytic. Anemia. Hematologic Diseases. Hemoglobinopathies. ... The participant has a history of acquired or congenital thrombotic thrombocytopenic purpura. ...
more infohttps://clinicaltrials.gov/ct2/show/NCT03997760?sfpd_d=14

Alternative treatments for autoimmune hemolytic anemia - New Doctor InsightsAlternative treatments for autoimmune hemolytic anemia - New Doctor Insights

Are you familiar with autoimmune hemolytic anemia? How to people get it? Many causes. Certain drugs, certain infections. Also ... Can you be more....: Specific? Im not sure which congenital hemolytic anemia you are speaking of. There are many causes of ... Possibly related: An ANA and hemolytic anemia are not the same. Hemolytic anemia is a anemia or low blood count secondary to ... Blood destruction: Hemolytic anemia is anemia caused by blood cell destruction. Anemia can generally occur due to decreased red ...
more infohttps://www.healthtap.com/topics/alternative-treatments-for-autoimmune-hemolytic-anemia

Paul M. Sondel, MD, PhDPaul M. Sondel, MD, PhD

Congenital Hemolytic Anemias Craniopharyngioma Cyclic Neutropenia Diamond-Blackfan Syndrome Endocrine Tumors Ependymoma ...
more infohttps://www.uwhealth.org/findadoctor/profile/paul-m-sondel-md-phd/7574

Kenneth B. DeSantes, MDKenneth B. DeSantes, MD

Congenital Hemolytic Anemias Craniopharyngioma Cyclic Neutropenia Diamond-Blackfan Syndrome Endocrine Tumors Ependymoma ...
more infohttps://www.uwhealth.org/findadoctor/profile/kenneth-b-desantes-md/5838

Anemia, An Issue of Medical Clinics of North America, Volume 101-2 - 1st EditionAnemia, An Issue of Medical Clinics of North America, Volume 101-2 - 1st Edition

Purchase Anemia, An Issue of Medical Clinics of North America, Volume 101-2 - 1st Edition. Print Book & E-Book. ISBN ... Autoimmune Hemolytic Anemia; Congenital Hemolytic Anemia; Sickle Cell Disease; Thrombotic Microangiopathy; Unusual Anemias; and ... Thomas G. DeLoughery, is devoted to anemia. Articles in this issue include: Anemia: Evaluation and Diagnostic Tests; Anemia of ... Anemia, An Issue of Medical Clinics of North America, Volume 101-2 1st Edition. ...
more infohttps://www.elsevier.com/books/anemia-an-issue-of-medical-clinics-of-north-america/deloughery/978-0-323-50980-0

Congenital Dyserythropoietic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsCongenital Dyserythropoietic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

... congenital, is related to anemia, congenital dyserythropoietic, type ia and congenital hemolytic anemia. An important gene ... Anemia, Congenital Dyserythropoietic, Type Iii Anemia, Congenital Dyserythropoietic, Type Ii Anemia, Congenital ... Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 ) ... MalaCards integrated aliases for Congenital Dyserythropoietic Anemia:. Name: Congenital Dyserythropoietic Anemia 12 76 53 25 29 ...
more infohttps://www.malacards.org/card/congenital_dyserythropoietic_anemia

Pyruvate Kinase Deficiency - NORD (National Organization for Rare Disorders)Pyruvate Kinase Deficiency - NORD (National Organization for Rare Disorders)

Nonspherocytic Hemolytic Anemia, Congenital with low PK Kinetics. General Discussion. Red cell pyruvate kinase deficiency is a ... Symptoms of hereditary nonspherocytic hemolytic anemia include moderate anemia, intermittent yellowing of the skin (jaundice) ... Hereditary nonspherocytic hemolytic anemias are thought to be a heterogeneous group of disorders characterized by red blood ... Hereditary spherocytic hemolytic anemia (hereditary spherocytosis) is characterized by the presence of red blood cells with a ...
more infohttps://rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/
  • Congenital hemolytic anemia (CHA) can be caused by the defect of any component in red blood cell (RBC), including hemoglobinopathies, membrane and cytoskeleton defects, and metabolic enzymopathies etc. (lww.com)
  • People with anemias often have damage to other organs such as the kidneys, which can be further damaged by the chemotherapy. (clinicaltrials.gov)