Elliptocytosis, Hereditary: An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.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.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.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.Anemia, Hemolytic, Congenital: Hemolytic anemia due to various intrinsic defects of the erythrocyte.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.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.)Erythrocyte Membrane: The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.Erythrocyte Deformability: Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.Erythrocytes, Abnormal: Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.Spherocytes: Small, abnormal spherical red blood cells with more than the normal amount of hemoglobin.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.Splenectomy: Surgical procedure involving either partial or entire removal of the spleen.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.Glucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase Deficiency: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Glyceraldehyde-3-Phosphate Dehydrogenases: Enzymes that catalyze the dehydrogenation of GLYCERALDEHYDE 3-PHOSPHATE. Several types of glyceraldehyde-3-phosphate-dehydrogenase exist including phosphorylating and non-phosphorylating varieties and ones that transfer hydrogen to NADP and ones that transfer hydrogen to NAD.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Parkinson Disease: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)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.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Nucleotidases: A class of enzymes that catalyze the conversion of a nucleotide and water to a nucleoside and orthophosphate. EC 3.1.3.-.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Pyruvate Kinase: ATP:pyruvate 2-O-phosphotransferase. A phosphotransferase that catalyzes reversibly the phosphorylation of pyruvate to phosphoenolpyruvate in the presence of ATP. It has four isozymes (L, R, M1, and M2). Deficiency of the enzyme results in hemolytic anemia. EC 2.7.1.40.Leukemia, Basophilic, Acute: A rare acute myeloid leukemia in which the primary differentiation is to BASOPHILS. It is characterized by an extreme increase of immature basophilic granulated cells in the bone marrow and blood. Mature basophils are usually sparse.alpha-Thalassemia: A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.alpha-Globins: Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.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.5'-Nucleotidase: A glycoprotein enzyme present in various organs and in many cells. The enzyme catalyzes the hydrolysis of a 5'-ribonucleotide to a ribonucleoside and orthophosphate in the presence of water. It is cation-dependent and exists in a membrane-bound and soluble form. EC 3.1.3.5.Translational Medical Research: The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.Awards and PrizesNational Institutes of Health (U.S.): An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.Seizures, Febrile: Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)Political Systems: The units based on political theory and chosen by countries under which their governmental power is organized and administered to their citizens.Democracy: A system of government in which there is free and equal participation by the people in the political decision-making process.National Center for Health Statistics (U.S.): A center in the PUBLIC HEALTH SERVICE which is primarily concerned with the collection, analysis, and dissemination of health statistics on vital events and health activities to reflect the health status of people, health needs, and health resources.Politics: Activities concerned with governmental policies, functions, etc.Academies and Institutes: Organizations representing specialized fields which are accepted as authoritative; may be non-governmental, university or an independent research organization, e.g., National Academy of Sciences, Brookings Institution, etc.Civil Rights: Legal guarantee protecting the individual from attack on personal liberties, right to fair trial, right to vote, and freedom from discrimination on the basis of race, color, religion, sex, age, disability, or national origin. (from http://www.usccr.gov/ accessed 1/31/2003)Pragmatic Clinical Trials as Topic: Works about randomized clinical trials that compare interventions in clinical settings and which look at a range of effectiveness outcomes and impacts.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Genome, Bacterial: The genetic complement of a BACTERIA as represented in its DNA.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Genome, Mitochondrial: The genetic complement of MITOCHONDRIA as represented in their DNA.Glucose-6-Phosphate Isomerase: An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.Anemia, Hemolytic, Congenital Nonspherocytic: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.Hydrops Fetalis: Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Exchange Transfusion, Whole Blood: Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria.Triose-Phosphate Isomerase: An enzyme that catalyzes reversibly the conversion of D-glyceraldehyde 3-phosphate to dihydroxyacetone phosphate. A deficiency in humans causes nonspherocytic hemolytic disease (ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC). EC 5.3.1.1.Electrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Optical Rotation: The rotation of linearly polarized light as it passes through various media.Electrophoresis, Cellulose Acetate: Electrophoresis in which cellulose acetate is the diffusion medium.Phosphofructokinase-1: An allosteric enzyme that regulates glycolysis by catalyzing the transfer of a phosphate group from ATP to fructose-6-phosphate to yield fructose-1,6-bisphosphate. D-tagatose- 6-phosphate and sedoheptulose-7-phosphate also are acceptors. UTP, CTP, and ITP also are donors. In human phosphofructokinase-1, three types of subunits have been identified. They are PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE; PHOSPHOFRUCTOKINASE-1, LIVER TYPE; and PHOSPHOFRUCTOKINASE-1, TYPE C; found in platelets, brain, and other tissues.Hemoglobins: The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.Oxygen: An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.Hemoglobin A: Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.Hemoglobins, Abnormal: Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.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.Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.Oxyhemoglobins: A compound formed by the combination of hemoglobin and oxygen. It is a complex in which the oxygen is bound directly to the iron without causing a change from the ferrous to the ferric state.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.Ubiquitins: A family of proteins that are structurally-related to Ubiquitin. Ubiquitins and ubiquitin-like proteins participate in diverse cellular functions, such as protein degradation and HEAT-SHOCK RESPONSE, by conjugation to other proteins.Fetal Hemoglobin: The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.

Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. (1/66)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (Blood. 2000;95:1499-1501)  (+info)

Cardiac dysfunction because of secondary hemochromatosis caused by congenital non-spherocytic hemolytic anemia. (2/66)

Most patients diagnosed with secondary hemochromatosis have had repeated blood transfusions. Cardiac failure accounts for approximately one-third of the deaths associated with hemochromatosis. Liver dysfunction or hormonal disorders such as diabetes generally precede cardiac failure. A 23-year-old woman with hemochromatosis had, despite significant left ventricular dysfunction, liver function within the normal range on biochemical evaluation. She was treated for congestive heart failure and given desferoxamine intravenously. She did not have primary hemochromatosis, and had not received multiple blood transfusions or iron supplement. As a child the patient had been diagnosed with congenital non-spherocytic hemolytic anemia not requiring transfusion; thus, this is a unique case of secondary hemochromatosis.  (+info)

Unique phenotypic expression of glucosephosphate isomerase deficiency. (3/66)

Studies of a Mexican kindred present evidence for a unique phenotype of erythrocyte glucosephosphate isomerase, GPI Valle Hermoso. The proband was apparently the homozygous recipient of a mutant autosomal allele governing production of an isozyme characterized by decreased activity, marked thermal instability, normal kinetics and pH optimum, and normal starch gel electrophoretic patterns. Unlike previously known cases, leukocyte and plasma GPI activities were unimpaired. This suggested that the structural alteration primarily induced enzyme instability without drastically curtailing catalytic effectiveness, thereby allowing compensation by cells capable of continued protein synthesis. Age-related losses of GPI, however, were not evident by density-gradient fractionation of affected erythrocytes.  (+info)

Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. (4/66)

In a Hungarian family with severe decrease in triosephosphate isomerase (TPI) activity, 2 germ line-identical but phenotypically differing compound heterozygote brothers inherited 2 independent (Phe240Leu and Glu145stop codon) mutations. The kinetic, thermodynamic, and associative properties of the recombinant human wild-type and Phe240Leu mutant enzymes were compared with those of TPIs in normal and deficient erythrocyte hemolysates. The specific activity of the recombinant mutant enzyme relative to the wild type was much higher (30%) than expected from the activity (3%) measured in hemolysates. Enhanced attachment of mutant TPI to erythrocyte inside-out vesicles and to microtubules of brain cells was found when the binding was measured with TPIs in hemolysate. In contrast, there was no difference between the binding of the recombinant wild-type and Phe240Leu mutant enzymes. These findings suggest that the missense mutation by itself is not enough to explain the low catalytic activity and "stickiness" of mutant TPI observed in hemolysate. The activity of the mutant TPI is further reduced by its attachment to inside-out vesicles or microtubules. Comparative studies of the hemolysate from a British patient with Glu104Asp homozygosity and with the platelet lysates from the Hungarian family suggest that the microcompartmentation of TPI is not unique for the hemolysates from the Hungarian TPI-deficient brothers. The possible role of cellular components, other than the mutant enzymes, in the distinct behavior of TPI in isolated form versus in hemolysates from the compound heterozygotes and the simple heterozygote family members is discussed.  (+info)

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia. (5/66)

Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the gene results in pyruvate kinase deficiency and is an important cause of hereditary nonspherocytic hemolytic anemia. Because of difficulties in isolating the mutant enzymes from patients, these mutations have not been fully studied. In this study, a complementary DNA (cDNA) encoding the human erythrocyte pyruvate kinase was generated. The cDNA was cloned into several expression vectors, and the protein was expressed and purified. The tetrameric protein exhibited properties characteristic of authentic human erythrocyte pyruvate kinase, including response to substrate, phosphoenolpyruvate, activation by fructose 1,6-bisphosphate, and inhibition by adenosine triphosphate (ATP). The N-terminal segment of the protein was highly susceptible to proteolysis, but only 2 of the 4 subunits were cleaved and lacked 47 N-terminal amino acid residues. A mutant protein, R510Q, which is the most frequently occurring mutation among Northern European population, was also generated and purified. The mutant protein retained its binding capacity to and could be activated by fructose 1,6-bisphosphate and showed similar kinetics toward phosphoenolpyruvate and adenosine diphosphate as for the wild-type enzyme. Conversely, the mutant protein has a dramatically decreased stability toward heat and is more susceptible to ATP inhibition. The enzyme instability decreases the enzyme level in the cell, accounting for the clinically observed "pyruvate kinase deficiency" of patients who are homozygous for this mutation. This study provides the first detailed functional characterization of human erythrocyte pyruvate kinase. These findings will allow the establishment of a fine correlation between molecular abnormalities and the clinical expression of the disease.  (+info)

Acid production in glycolysis-impaired tumors provides new insights into tumor metabolism. (6/66)

PURPOSE: Low extracellular pH is a hallmark of solid tumors. It has long been thought that this acidity is mainly attributable to the production of lactic acid. In this study, we tested the hypothesis that lactate is not the only source of acidification in solid tumors and explored the potential mechanisms underlying these often-observed high rates of acid production. EXPERIMENTAL DESIGN: We compared the metabolic profiles of glycolysis-impaired (phosphoglucose isomerase-deficient) and parental cells in both in vitro and two in vivo models (dorsal skinfold chamber and Gullino chamber). RESULTS: We demonstrated that CO(2), in addition to lactic acid, was a significant source of acidity in tumors. We also found evidence supporting the hypothesis that tumor cells rely on glutaminolysis for energy production and that the pentose phosphate pathway is highly active within tumor cells. Our results also suggest that the tricarboxylic acid cycle is saturable and that different metabolic pathways are activated to provide for energy production and biosynthesis. CONCLUSIONS: These results are consistent with the paradigm that tumor metabolism is determined mainly by substrate availability and not by the metabolic demand of tumor cells per se. In particular, it appears that the local glucose and oxygen availabilities each independently affect tumor acidity. These findings have significant implications for cancer treatment.  (+info)

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (7/66)

Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase deficiency, the most common cause of the nonspherocytic hemolytic anemia. To provide a molecular framework to the disease, we have solved the 2.7 A resolution crystal structure of human RPK in complex with fructose 1,6-bisphosphate, the allosteric activator, and phosphoglycolate, a substrate analogue, and we have functionally and structurally characterized eight mutants (G332S, G364D, T384M, D390N, R479H, R486W, R504L, and R532W) found in RPK-deficient patients. The mutations target distinct regions of RPK structure, including domain interfaces and catalytic and allosteric sites. The mutations affect to a different extent thermostability, catalytic efficiency, and regulatory properties. These studies are the first to correlate the clinical symptoms with the molecular properties of the mutant enzymes. Mutations greatly impairing thermostability and/or activity are associated with severe anemia. Some mutant proteins exhibit moderate changes in the kinetic parameters, which are sufficient to cause mild to severe anemia, underlining the crucial role of RPK for erythrocyte metabolism. Prediction of the effects of mutations is difficult because there is no relation between the nature and location of the replaced amino acid and the type of molecular perturbation. Characterization of mutant proteins may serve as a valuable tool to assist with diagnosis and genetic counseling.  (+info)

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. (8/66)

In this study the blood cells of 4 male patients from 2 unrelated families with chronic nonspherocytic anemia and recurrent bacterial infections were investigated. The activity of glucose-6- phosphate dehydrogenase (G6PD) in the red blood cells and in the granulocytes of these patients was below detection level. Moreover, their granulocytes displayed a decreased respiratory burst upon activation. Sequencing of genomic DNA revealed a novel 3-base pair (TCT) deletion in the G6PD gene, predicting the deletion of a leucine at position 61. The mutant G6PD protein was undetectable by Western blotting in the red blood cells and granulocytes of these patients. In phytohemagglutinin-stimulated lymphocytes the G6PD protein was present, but the amount of G6PD protein was strongly diminished in the patients' cells. Purified mutant protein from an Escherichia coli expression system showed decreased heat stability and decreased specific activity. Furthermore, we found that the messenger RNA of G6PD(180-182delTCT) is unstable, which may contribute to the severe G6PD deficiency observed in these patients. We propose the name "G6PD Amsterdam" for this new variant.  (+info)

*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 ...

*Congenital hemolytic anemia

This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... 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 ...

*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 ...

*List of MeSH codes (C15)

... anemia, dyserythropoietic, congenital MeSH C15.378.071.141.150.100 --- anemia, hemolytic, congenital nonspherocytic MeSH ... hemolytic MeSH C15.378.071.141.125 --- anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 --- anemia, hemolytic, congenital ... 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 (H)

Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ... congenital Hillig syndrome Hing-Torack-Dowston syndrome Hinson-Pepys disease Hip dislocation Hip dysplasia Beukes type Hip ... Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic- ... neuropathy type I Hereditary sensory neuropathy type II Hereditary spastic paraplegia Hereditary spherocytic hemolytic anemia ...

*Isomerase

It is a congenital disease that most often occurs with hemolytic anemia and manifests with jaundice. Most patients with TPI for ... 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- ... It is characterized by hemolytic anemia and neurodegeneration, and is caused by anaerobic metabolic dysfunction. This ...

*List of OMIM disorder codes

GSS Hemolytic anemia due to hexokinase deficiency; 235700; HK1 Hemolytic anemia, nonspherocytic, due to glucose phosphate ... 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 ... Anemia, hemolytic, Rh-null, regulator type; 268150; RHAG Anemia, hypochromic microcytic; 206100; NRAMP2 Anemia, sideroblastic, ...
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 ...
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?
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] ...
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
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James Stewardson Research and Welfare Trust, The - documenting the race against time to save the lives of a small number of children, we are creating public awareness and calling for support. ...
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Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a compound heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a compound heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.
DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients. Seven new mutations in the coding region were found: 247 C--,T, 671 C--,T, 818 G--,A, 833 C--,T, 1039 C--,T, 1459 C--,T, and 1483 G--,A. Three patients were compound heterozygotes, and one patient was a homozygote of 247 C--,T/247 C--,T. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biological activity. Two polymorphic sites were also identified, 489 A--,G and 1356 G--,C, which do not produce a change in the amino acid sequence. ...
HBA_HUMAN] Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.[1] Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies ...
HBA_HUMAN] Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.[1] Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies ...
Evaluation of nonspherocytic hemolytic anemia. Evaluation of neonatal anemia. Evaluation of unusually severe hemoglobin S trait. Evaluation of unusually severe glucose-6-phosphate dehydrogenase deficiency. Investigating families with pyruvate kinase deficiency to determine inheritance pattern and for genetic counseling. ...
Q: How is G6PD deficiency diagnosed? A: The diagnosis of G6PD deficiency can be made on the basis of a well-documented history, evidence of hemolysis, a peripheral-blood smear showing Heinz bodies (erythrocytes with denatured hemoglobin), and bite cells, and the measurement of the level of G6PD activity. G6PD deficiency should be considered in patients with acute, nonspherocytic hemolytic anemia and a negative Coombs test, especially those who are men of African, Mediterranean, or Asian descent. It is important to remember that the level of enzyme activity may remain normal during an acute hemolytic episode because only nonhemolyzed, freshly produced, younger red cells are assayed. If G6PD deficiency remains a concern after normal activity is measured, the assay must be repeated a few weeks later, once hemolysis has ceased and cells of all ages are again present.. Q: How is hemolysis secondary to G6PD deficiency treated? A: The disease is self-limited, and treatment is directed toward halting ...
Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured in unpurified cell extracts of affected individuals. These observations allowed concluding that the different mutations in the TPI alleles result in catalytically inactive enzymes. However, despite a high occurrence of TPI null alleles within several human populations, the frequency of this disorder is exceptionally rare. In order to address this apparent discrepancy, we generated a yeast model allowing us to perform comparative in vivo analyses of the enzymatic and functional properties of the different enzyme variants. We discovered that the majority of these variants exhibit no reduced catalytic activity per se. Instead, we observed, the dimerization behavior of TPI is influenced by the particular mutations investigated, and
The presence of any intravascular mechanism that destroys red cells in excess of bone marrow compensation results in an anemia of the hemolytic type. Any classification of the hemolytic anemias is difficult because of the large number and wide variety of agents that can destroy red cells. Among such agents are bacterial and parasitic infections, drugs, chemicals, animal poisons, and occasionally red cell destruction occurs as an allergic phenomenon as observed in sensitivity to the bean Vicia fava or the pollen of its flower. Chronic familial hemolytic icterus with spherocytosis, increased fragility of the red cells to hypotonic saline solutions ...
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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 ...
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 ...
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009 ...
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More than 200 mutations in the PKLR gene have been identified in people with pyruvate kinase deficiency. People with this disorder have two PKLR gene mutations in each cell. Most of the mutations that cause pyruvate kinase deficiency replace single protein building blocks (amino acids) in the pyruvate kinase enzyme or result in an enzyme that is abnormally short. The mutations lead to reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. The abnormal red blood cells are gathered up by the spleen and destroyed.. The resulting shortage of oxygen-carrying red blood cells (anemia) leads to extreme tiredness (fatigue), unusually pale skin (pallor), and shortness of breath. Iron and a molecule called bilirubin are released when red blood cells are destroyed, resulting in an excess of these substances circulating in the blood. Excess bilirubin in the blood causes yellowing of the eyes and ...
There were no significant differences in sex, plasma ferritin level, use of pre-transplant chelation therapy, transfusion burden in the 12 months prior to HSCT, adapted EBMT-score, conditioning regimen, relation to donor, graft type, donor-recipient sex combination, or transplant source.. In conclusion, herein we discuss the first global study on the outcome of all patients known to have undergone HSCT in PKD. Since guidelines for HSCT in PKD are lacking, this report may be a helpful first step toward future protocols. Compared to published survival rates for other forms of hereditary anemias, cohorts that are otherwise comparable in age, time period and transplant hospital, the overall survival rate after HSCT in PKD is relatively low.11-13 The present analysis of all 16 PKD patients known to be transplanted to date showed a three-year overall survival of 65%. Significantly better survival was observed for patients transplanted before the age of ten. A negative effect of age on survival is also ...
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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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 ...
Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia:-Clinical and Biochemical Studies- (1981 ...
Glucose phosphate broth is used to perform Methyl Red (MR) test and Voges Proskauer (VP) test. Glucose - 5 g/l Dipotassium phosphate - 5 g/l Proteose Peptone - 5 g/l Distilled water - 1000 ml pH - 6.9 Principle: It is used to determine the ability of an organism to produce mixed acids by fermentation of glucose and to overcome the buffering capacity of the medium. Inoculate MacConkeys (Glucose phosphate broth) with pure culture of test organism. Incubate the broth at 35 °C for 48-72 hours. After incubation add 5 drops of Methyl Red directly into the broth, through the sides of the tube. The development of stable red color in the surface of the medium indicates sufficient acid production to lower the pH to 4.4 and constitute a positive test. Since other organism may produce lesser quantities of acid from the test substrate, an intermediate orange color between yellow and red may develop. This does not indicate positive test. Positive and negative controls should be run after preparation of each ...
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.... ...
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.
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...
Complete information about Hemolytic Anemia, including signs and symptoms; conditions that suggest it; contributing risk factors; conditions suggested by it.
Suri, JS , Liu, KC , Singh, S , Laxminarayan, SN , Zeng, XL , and Reden, L , "Shape recovery algorithms using level sets in 2-D/3-D medical imagery: A state-of-the-art review ," IEEE TRANSACTIONS ON INFORMATION TECHNOLOGY IN BIOMEDICINE , vol. 6 , pp. 8 -28 , 2002 . (abstract) ...
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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.
La glucosa-6-fosfato isomerasa (EC 5.3.1.9) es una enzima, presente en gran parte de los seres vivos; cataliza la reacción reversible de glucosa-6-fosfato a fructosa-6-fosfato. En el citoplasma, forma parte de las rutas metabólicas de la glucólisis y la gluconeogénesis, y en la matriz extracelular funciona como factor neurotrófico para cierto tipo de neuronas. La reacción es la siguiente: Walker JI, Faik P, Morgan MJ (1990). «Characterization of the 5 end of the gene for human glucose phosphate isomerase (GPI).». Genomics 7 (4): 638-43. PMID 2387591. doi:10.1016/0888-7543(90)90212-D. Brownstein BH, Silverman GA, Little RD, et al. (1989). «Isolation of single-copy human genes from a library of yeast artificial chromosome clones.». Science 244 (4910): 1348-51. PMID 2544027. doi:10.1126/science.2544027. Mizrachi Y (1989). «Neurotrophic activity of monomeric glucophosphoisomerase was blocked by human immunodeficiency virus (HIV-1) and peptides from HIV-1 envelope glycoprotein.». J. ...
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... 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.
Compare risks and benefits of common medications used for Hemolytic Anemia. Find the most popular drugs, view ratings, user reviews, and more...
Update on the evidence-base for psychodynamic child psychotherapy. We are delighted to announce that The Journal of Child Psychotherapy has just published, online, an update of ACP member, Nick Midgley and Eilis Kennedys 2011 review of the evidence base for psychodynamic therapy with children and adolescents.. The new paper,"Psychodynamic psychotherapy for children and adolescents: an updated narrative review of the evidence-base", written by Midgley, OKeefe, French and Kennedy, covers 23 new studies published between 2011 and 2016, adding to the growing evidence for the effectiveness of child psychotherapy. The printed version of the paper will be included in an issue of the Journal of Child Psychotherapy later in the year. Members can access the paper in the journal link on our website. For those who arent members who would like to purchase the paper it is available here.. ...
Introduction. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic deficiency of red blood cells in humans, affecting around 400 million people around the world.1 The condition is most prevalent in the Mediterranean and the Middle East areas. The enzyme G6PD is involved in the pentose phosphate pathway which is essential for red cell metabolism. It leads to the generation of NADPH (reduced form of nicotinamide adenine dinucleotide phosphate) which keeps the hemoglobin (Hb) heme iron in the ferrous state.. There are number of variants of this disease with variable deficiency levels and clinical manifestations.1,2 Severe deficiency (,10% activity) manifests as chronic hemolytic anemia. The most common variant in Oman is the Mediterranean variant.2 It is well known that there are number of precipitating factors for hemolysis in this condition, including fava beans and henna. Though many patients in Oman eat fava beans without having any hemolytic consequences, some ...
Davidson, R. G., Nitowsky, H. M., Childs, B.: Demonstrations of two populations of cells in the human heterozygous for glucose-6-phosphate dehydrogenase variants. Proc. Nat. Acad. Sci. USA 50, 481-485 (1963)Google Scholar ...
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 ...
If you have a severe medically determinable impairment s that does not meet a listing, we will determine whether your impairment s medically equals a listing. Share this page from the NHLBI on Blogger. Hemolytic anemias, both congenital and acquired, are disorders that result. Primary care doctors, such as a family doctor or pediatrician, may help diagnose and treat hemolytic anemia. Australian and New Zealand Paediatric Nephrology Association. Hemolytic disease of the newborn. Tchernia G, Delhommeau F, Perrotta S, Cynober T, Bader-Meunier B, Nobili B, et al. Successful treatment of a patient with mixed warm and cold antibody mediated Evans syndrome and glucose intolerance. Symptoms of hemolytic anemia are similar to other forms of anemia fatigue and shortness of breathbut in addition, the breakdown of red cells leads to jaundice and increases the risk of particular long-term complications, such hook with local singles comcasual hookups gallstones and pulmonary hypertension. Cervantes ...
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 ...
What is Hemolytic Anemia ? Hemolytic anemia is a rare blood disorder in which red blood cells are rapidly destroyed. The severity of this type of anemia is dete
Heritable Hemolytic Anemia/PKD is where the red cells have a genetically controlled defective pyruvate kinase activity. This is not a curable anemia.
Learn more about Hemolytic Anemia symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Learn more about the causes, symptoms, complications, and treatments for hemolytic anemia, and how to participate in an NHLBI clinical trial.
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Hemolytic anemia is a disorder in which red blood cells are destroyed faster than they can be made. The destruction of red blood cells is called hemolysis. Red blood cells carry oxygen to all parts of your body. If you have a lower than normal amount of red blood cells, you have anemia. When you have anemia, your blood cant bring enough oxygen to all your tissues and organs. Without enough oxygen, your body cant work as well as it should. Hemolytic anemia can be inherited or acquired:. ...
Formerly known as autoimmune hemolytic anemia or AIHA) Immune-mediated hemolytic anemia is a condition where the patients immune system begins attacking his or her own red blood cells. What occurs on a microscopic level is this: the branch of the immune system that produces antibodies begins to direct them against the patients own red blood cells. The red blood cells become quickly coated with tiny antibody proteins, essentially marking these red blood cells for destruction. When too many red blood cells are destroyed the patient is said to be anemic, and will feel cold and weak ...
Hemolytic anemia is defined as a shortening of red blood cell (RBC) survival to less than 100 days (normal: approximately 120 days) due to an increased rate of destruction of RBCs. (See.)Hemolytic anemia is caused by one of two mechanisms:Abnormaliti
The paper reports about a performance comparison within a joint project of computer vision, and sport and exercise sciences. The project is directed on the understanding of human motion based on shape features and kinetic studies. Three shape recovery techniques, a traditional technique as used in sport and exercise sciences (manual measurement based on an elliptical zone assumption) and two computer vision techniques (based on a small number of occluding contours, and a new combination of photometric stereo and shape from boundaries), are compared using a mannequin as test object. The computer vision techniques have been designed to go towards dynamic shape recovery (humans in motion). The paper reports about these three techniques and their measurement accuracies. 1 Centre for Image Technology and Robotics, Computer Vision Unit, The University of Auckland, Auckland, New Zealand 2 Department of Sport and Exercise Sciences, Tamaki Campus, The University of Auckland, Auckland, New Zealand A Comparison of
View Notes - Heme cases Mar 24_teaching aid from PHARM HEM at UCSD. Feb 24, 2011 SOM 214 Hemolytic anemias Classifications: Intrinsic vs. Extrinsic = mechanism Hereditary vs. Acquired = chronicity,
Pyrimidine 5-Nucleotidase (P5N) Deficiency P5N is a key enzyme in the catabolism of nucleotides arising from the degradation of nucleic acids that takes place in the final stages of red cell maturation. How exactly its deficiency causes HA is not well understood, but a highly distinctive feature of this condition is a morphologic abnormality of the red cells known as basophilic stippling. The condition is rare, but it probably ranks third in frequency among red cell enzyme defects (after G6PD deficiency and PK deficiency). ...
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 ...
AIHA is the current problem - in addition to the CLL, of course. Dave has had some ups and downs the last few weeks, and hes due to start Chemo again tomorrow. But Im not convinced that his blood counts are adequate (that he can withstand a round of chemo.) The doctor has been increasing his Prednisone, but based on his appearance, I have a feeling his counts are down again. He had more blood drawn this morning, so tomorrow morning, when we meet with the doctor, well know for sure ...
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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 ...
All enzyme defects, including erythrocyte enzyme errors, are inherited; some are sex-linked and located on the X chromosome. Some family members have no hematologic abnormalities, while others have a hemolytic anemia. For a number of RBC enzyme defects (eg, deficiencies of hexokinase, glucose phosphate isomerase, pyruvate kinase), the sole clinical manifestation is hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency is the most common metabolic error of the red cell and presents with acute hemolytic anemia in response to oxidant stress (eg, drugs, acute infections, fava bean ingestion).. This is a consultative evaluation looking at red cell enzyme defects as the cause for early red cell destruction.. ...
CHAPTER 57 DRUG-RELATED IMMUNE HEMOLYTIC ANEMIA Williams Hematology CHAPTER 57 DRUG-RELATED IMMUNE HEMOLYTIC ANEMIA CHARLES H. PACKMAN Definitions and History Etiology and Pathogenesis Hapten or Drug Adsorption Mechanism Ternary Complex Mechanism: Drug-Antibody-Target Cell Complex Autoantibody Mechanism Nonimmunologic Protein Adsorption Clinical Features Laboratory Features Differential Diagnosis Therapy, Course, and Prognosis Therapy Course and Prognosis Chapter References…
Merck & Co., Inc., Kenilworth, NJ, USA is a global healthcare leader working to help the world be well. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Merck Manual was first published in 1899 as a service to the community. The legacy of this great resource continues as the Merck Manual in the US and Canada and the MSD Manual in the remainder of the world. Learn more about our commitment to Global Medical Knowledge.. ...
We have reported these cases to highlight new treatment modalities for cholestasis in hemoglobinopathies and stimulate the search for the etiopathogenesis. The prevalence of hemoglobinopathies varies with geographic locations and ethnic groups in India. Among the clinically important hemoglobinopathies (Hb S, Hb D, Hb E and beta thalassemia), hemoglobin E (Hb E) is mostly restricted to the North-eastern Indian states with an average allele frequency of 10.9% [6]. In a large multicenter study in India, HbD trait was more common among Sikhs (1.4%) and few individuals with HbD homozygous, HbD-β-thalassemia, HbD Iran trait, HbQ India trait, and Hb Lepore trait were also encountered at the different centers [7].. Heterozygous Hb D-Punjab is a clinically silent condition, but coinheritance of Hb D with Hb S or beta thalassemia produces clinically significant conditions like sickle cell anemia and chronic hemolytic anemia of moderate severity [8]. Recurrent jaundice is more commonly described in Hb SD ...
MalaCards based summary : Anhidrosis, also known as absence of sweating, is related to pyruvate kinase deficiency and insensitivity to pain, congenital, with anhidrosis, and has symptoms including increased sweating An important gene associated with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta Pathway. The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and lung, and related phenotypes are behavior/neurological and growth/size/body region ...
Gallegher PG. Hemolytic anemias. In: Goldman L, Schafer AI, eds. Goldmans Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.. Jager U, Lechner K. Autoimmune hemolytic anemia. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 44.. Price EA, Schrier SS. Extrinsic nonimmune hemolytic anemias. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 45. ...
Auto-immune Hemolytic Anemia is a life threatening disease where the body attacks its own red blood cells. Symptoms of Auto-immune Hemolytic Anemia are jaundice, fainting, pale gums, lips and eye margins, dark tea colored urine, lethargy and rapid
The hemolytic anemias are a group of disorders in which the red blood cells are destroyed faster than the bone marrow can make them. The term for destruction of red blood cells is hemolysis.
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 ...
The following testimonial letter was translated from Spanish.). As believers in God, we are are sure that Carao was an answer sent by the Lord in response to our prayers. For more than 2 years, David had been taking Prednizolona, in relatively large doses (up to 20 mg. daily) for a child of his age (4 years) and when the dosage was reduced (following the doctors instructions) the autoimmune hemolytic anemia reappeared. On 4 occasions, David required blood transfusions.. When he started taking Carao, he immediately began to improve. read 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...
J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14 ...
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Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type | Annals of Internal Medicine | American...Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type | Annals of Internal Medicine | American...

Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type HERBERT S. BOWMAN, M.D., F.A.C.P.; FRANK ... Since initially defined by Dacie (1) in 1953 as "atypical congenital hemolytic anemia the general characteristics of this ... The non-spherocytic hemolytic anemias comprise a seemingly diverse group of diseases intrinsic to the red cell when they are ... BOWMAN HS, PROCOPIO F. Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type. Ann Intern Med. 1963; ...
more infohttp://annals.org/aim/article-abstract/678579/hereditary-non-spherocytic-hemolytic-anemia-pyruvate-kinase-deficient-type

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 ... Synonyms: hereditary nonspherocytic hemolytic anemia; HNSHA ...
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 ... Synonyms: hereditary nonspherocytic hemolytic anemia; HNSHA ...
more infohttp://www.informatics.jax.org/disease/OMIM:300908

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

A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency - Full Text View - ClinicalTrials.govA Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency - Full Text View - ClinicalTrials.gov

Anemia, Hemolytic, Congenital Nonspherocytic. Pyruvate Metabolism, Inborn Errors. Anemia, Hemolytic, Congenital. Anemia, ... Allergy to sulfonamides if characterized by acute hemolytic anemia, anaphylaxis, rash of erythema multiforme type or Stevens- ... Hemolytic. Anemia. Hematologic Diseases. Genetic Diseases, Inborn. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn ... Additional diagnosis of other congenital or acquired blood disorder. *Iron overload sufficiently severe to result in cardiac, ...
more infohttps://clinicaltrials.gov/ct2/show/NCT02476916?term=AG-348&rank=3

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy - Full Text View - ClinicalTrials.govFat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy - Full Text View - ClinicalTrials.gov

Anemia, Hemolytic, Congenital Nonspherocytic. Genetic Diseases, X-Linked. Genetic Diseases, Inborn. Lysosomal Storage Diseases ... Ichthyosiform Erythroderma, Congenital. Lipidoses. Glycogen Storage Disease Type V. Glycogen Storage Disease Type IV. Glycogen ...
more infohttps://clinicaltrials.gov/ct2/show/study/NCT02635269?recrs=abc&cond=%22Muscular+Diseases%22&rank=26

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 ... It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that ... 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 ...
more infohttps://rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/

Anemia, Hereditary Nonspherocytic Hemolytic - NORD (National Organization for Rare Disorders)Anemia, Hereditary Nonspherocytic Hemolytic - NORD (National Organization for Rare Disorders)

Anemia, Hereditary Nonspherocytic Hemolytic. Synonyms of Anemia, Hereditary Nonspherocytic Hemolytic. *Congenital ... warm antibody hemolytic anemia, cold antibody hemolytic anemia, acquired autoimmune hemolytic anemia, pernicious anemia, folic ... Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later. Baillieres ... The symptoms of hereditary nonspherocytic hemolytic anemia may include moderate anemia (which may cause tiredness), recurrent ...
more infohttps://rarediseases.org/rare-diseases/anemia-hereditary-nonspherocytic-hemolytic/

Tang F[au] - PubMed - NCBITang F[au] - PubMed - NCBI

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Tang+F%5Bau%5D&dispmax=50

ICD-9-CM Diagnosis Code 282.1 : Hereditary elliptocytosisICD-9-CM Diagnosis Code 282.1 : Hereditary elliptocytosis

congenital (spherocytic) (see also Spherocytosis) 282.0. *. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... Anemia 285.9. *. elliptocytosis (see also Elliptocytosis) 282.1. *. hemolytic 283.9. *. acquired 283.9. *. with hemoglobinuria ... nonspherocytic*. congenital or hereditary NEC 282.3. *. glucose-6-phosphate dehydrogenase deficiency 282.2. ... Home > 2015 ICD-9-CM Diagnosis Codes > Diseases Of The Blood And Blood-Forming Organs 280-289 > Hereditary hemolytic anemias ...
more infohttp://www.icd9data.com/2015/Volume1/280-289/282/282.1.htm

ICD-9-CM Diagnosis Code 282.0 : Hereditary spherocytosisICD-9-CM Diagnosis Code 282.0 : Hereditary spherocytosis

congenital (spherocytic) (see also Spherocytosis) 282.0*. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... nonspherocytic*. congenital or hereditary NEC 282.3. *. glucose-6-phosphate dehydrogenase deficiency 282.2. ... Home > 2015 ICD-9-CM Diagnosis Codes > Diseases Of The Blood And Blood-Forming Organs 280-289 > Hereditary hemolytic anemias ... hemolytic 283.9. *. acquired 283.9. *. with hemoglobinuria NEC 283.2. *. autoimmune (cold type) (idiopathic) (primary) ( ...
more infohttp://www.icd9data.com/2015/Volume1/280-289/282/282.0.htm

G6PD Gene - GeneCards | G6PD Protein | G6PD AntibodyG6PD Gene - GeneCards | G6PD Protein | G6PD Antibody

anemia,non spherocytic,congenital,hemolytic anemia,favism Relevant External Links for G6PD. Genetic Association Database (GAD) ... hemolytic anemia due to g6pd deficiency. *anemia, nonspherocytic hemolytic, due to g6pd deficiency ... Pathogenic, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,536,002(-). TCATC(A/G)TGGGC. ... other, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,535,187(-). TTCAC(A/G)AGTCC. ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=G6PD&origene_gfp_func=2&rf=/home/genecards/current/website/carddisp.pl

G6PD Gene - GeneCards | G6PD Protein | G6PD AntibodyG6PD Gene - GeneCards | G6PD Protein | G6PD Antibody

anemia,non spherocytic,congenital,hemolytic anemia,favism Relevant External Links for G6PD. Genetic Association Database (GAD) ... Pathogenic, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,536,002(-). TCATC(A/G)TGGGC. ... other, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,535,187(-). TTCAC(A/G)AGTCC. ... Pathogenic, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]. 154,534,495(-). GCAGA(A/G)GCTGG. ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=G6PD&origene_gfpshrna_trans=5

Genetic studies on Arabs - WikipediaGenetic studies on Arabs - Wikipedia

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 ...
more infohttps://en.wikipedia.org/wiki/Genetic_studies_on_Arabs

Basophilic stippling - BioMedSearchBasophilic stippling - BioMedSearch

Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5 nucleotidase deficiency: 25 ... ... Pyrimidine 5-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia ... In 1972, Valentine et al described, under the name of non-spherocytic haemolytic anaemia, high red cell ATP and ribose ... Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency ...
more infohttp://www.biomedsearch.com/searchlist.html?p=3&query_txt=Basophilic+stippling&sort=relevance

Glycogen Storage Disease Xii disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsGlycogen Storage Disease Xii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

normocytic anemia normochromic anemia congenital nonspherocytic hemolytic anemia normal red cell osmotic fragility ... MalaCards based summary : Glycogen Storage Disease Xii, also known as aldolase a deficiency, is related to hemolytic anemia, ... OMIM : 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., ... Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. ( 2825199 ...
more infohttp://www.malacards.org/card/glycogen_storage_disease_xii

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a...Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a...

... is the most common glycolytic enzyme deficiency causing congenital nonspherocytic hemolytic anemia with a variable clinical ... Molecular basis of nonspherocytic hemolytic anemia. J Biol Chem. 2002;277(26):23807-23814. ... Other causes of congenital hemolytic anemia (CDA, other glycolytic enzyme disorders, hemoglobinopathies and membranopathies) ... The precise diagnosis of severe congenital hemolytic anemias including glycolytic enzyme deficiencies is often complex because ...
more infohttp://www.haematologica.org/node/82022.full.print

TargetsTargets

Anemia, Hemolytic. 1 , 12 Anemia, Hemolytic, Congenital Nonspherocytic. 1 , 3 Anemia, Hypochromic Microcytic, With Iron ... Congenital hemolytic anemia. 1 , 31 Congenital nonspherocytic hemolytic anemia. 1 , 5 Cryptosporidiosis. 1 , 12 ...
more infohttps://pharos.nih.gov/idg/targets?facet=Grant+Application/5R01DK092684-02

Congenital hemolytic anemia - WikipediaCongenital hemolytic anemia - Wikipedia

This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital ... 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

CFR - Code of Federal Regulations Title 21CFR - Code of Federal Regulations Title 21

... assay are used in the diagnosis and treatment of nonspherocytic congenital hemolytic anemia or drug-induced hemolytic anemia ... The Coombs test is used for the diagnosis of hemolytic disease of the newborn, and autoimmune hemolytic anemia. The test is ... A red blood cell enzyme assay is used to determine the enzyme defects responsible for a patients hereditary hemolytic anemia. ... The measurement of hemoglobin A2 is used in the diagnosis of the thalassemias (hereditary hemolytic anemias characterized by ...
more infohttps://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfCFR/CFRSearch.cfm?CFRPart=864&showFR=1%E2%8A%82partNode=21:8.0.1.1.19.2

CFR - Code of Federal Regulations Title 21CFR - Code of Federal Regulations Title 21

... assay are used in the diagnosis and treatment of nonspherocytic congenital hemolytic anemia or drug-induced hemolytic anemia ... The Coombs test is used for the diagnosis of hemolytic disease of the newborn, and autoimmune hemolytic anemia. The test is ... A red blood cell enzyme assay is used to determine the enzyme defects responsible for a patients hereditary hemolytic anemia. ... The measurement of hemoglobin A2 is used in the diagnosis of the thalassemias (hereditary hemolytic anemias characterized by ...
more infohttps://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/CFRSearch.cfm?CFRPart=864&showFR=1

Mechanisms of the acquired erythrocyte enzyme deficiencies in blood diseases | MetaMechanisms of the acquired erythrocyte enzyme deficiencies in blood diseases | Meta

In 1 patient with acute leukemia, 4 with refractory anemia and 1 with acquired dyserythropoiesis the defect of the pyruvate ... sideroblastic refractory anemias and unclassified acquired dyserythropoiesis. 6 patients with acute myeloid leukemia had a ... Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia. BlutSeptember ... Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal ...
more infohttps://www.meta.org/papers/mechanisms-of-the-acquired-erythrocyte-enzyme/134855

SelfDecode | Genome AnalysisSelfDecode | Genome Analysis

Anemia, Hemolytic, Congenital Nonspherocytic TPI1. Aneuploidy AURKA. Aniridia PAX6. Aniridia Cerebellar Ataxia Mental ...
more infohttps://www.selfdecode.com/molecular-function/GO:0031625/

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 ... 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 ...
more infohttps://www.meta.org/papers/congenital-haemolytic-anaemia-resulting-from/469896
  • Acquired enzymatic activity defects of erythrocyte pyruvate kinase, glucose phosphate isomerase and phosphofructokinase have been studied in patients with acute myeloid leukemias, sideroblastic refractory anemias and unclassified acquired dyserythropoiesis. (meta.org)
  • Most of the published works regarding drug-induced haemolysis in LA referred to haemolytic crises in P. vivax malaria patients during the course of the treatment with primaquine (PQ). (biomedcentral.com)
  • The adult level of 1 per cent is not reached in some children until puberty Hb F concentration in adults increases in some types of anemia, hemoglobinopathies, and some time in leukemia. (blogspot.com)
  • Enhanced abdominal CT scan was found negative, however laboratory tests showed hemolytic anemia and basophilic stippling which are often seen in lead and heavy metal poisoning. (biomedsearch.com)
  • 315 sexually transmitted, injury or more bacterial, anaemia, morfeld m stat plus visible fluid. (beforelive.me)
  • A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.Visit the Orphanet disease page for more resources. (malacards.org)
  • 71 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. (malacards.org)