Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
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.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
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.
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
An enzyme that catalyzes the conversion of ATP and a D-hexose to ADP and a D-hexose 6-phosphate. D-Glucose, D-mannose, D-fructose, sorbitol, and D-glucosamine can act as acceptors; ITP and dATP can act as donors. The liver isoenzyme has sometimes been called glucokinase. (From Enzyme Nomenclature, 1992) EC 2.7.1.1.

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)

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, dizziness, headaches, and pale or yellowish skin. Treatment options depend on the underlying cause but may include blood transfusions, medication to suppress the immune system, antibiotics for infections, and removal of the spleen (splenectomy) in severe cases.

Prevention strategies for hemolytic anemia include avoiding triggers such as certain medications or infections, maintaining good hygiene practices, and seeking early medical attention if symptoms persist or worsen over time.

It is important to note that while hemolytic anemia can be managed with proper treatment, it may not be curable in all cases, and ongoing monitoring and care are necessary to prevent complications and improve quality of life.

Prevalence: Anemia, hemolytic, congenital is a rare disorder, affecting approximately 1 in 100,000 to 1 in 200,000 births.

Causes: The condition is caused by mutations in genes that code for proteins involved in hemoglobin synthesis or red blood cell membrane structure. These mutations can lead to abnormal hemoglobin formation, red blood cell membrane instability, and increased susceptibility to oxidative stress, which can result in hemolytic anemia.

Symptoms: Symptoms of anemia, hemolytic, congenital may include jaundice (yellowing of the skin and eyes), fatigue, weakness, pale skin, and shortness of breath. In severe cases, the condition can lead to life-threatening complications such as anemia, infections, and kidney failure.

Diagnosis: Anemia, hemolytic, congenital is typically diagnosed through a combination of physical examination, medical history, and laboratory tests, including blood smear examination, hemoglobin electrophoresis, and mutation analysis.

Treatment: Treatment for anemia, hemolytic, congenital depends on the specific underlying genetic cause and may include blood transfusions, folic acid supplements, antibiotics, and/or surgery to remove the spleen. In some cases, bone marrow transplantation may be necessary.

Prognosis: The prognosis for anemia, hemolytic, congenital varies depending on the specific underlying genetic cause and the severity of the condition. With appropriate treatment, many individuals with this condition can lead relatively normal lives, but in severe cases, the condition can be life-threatening.

There are many different types of anemia, each with its own set of causes and symptoms. Some common types of anemia include:

1. Iron-deficiency anemia: This is the most common type of anemia and is caused by a lack of iron in the diet or a problem with the body's ability to absorb iron. Iron is essential for making hemoglobin.
2. Vitamin deficiency anemia: This type of anemia is caused by a lack of vitamins, such as vitamin B12 or folate, that are necessary for red blood cell production.
3. Anemia of chronic disease: This type of anemia is seen in people with chronic diseases, such as kidney disease, rheumatoid arthritis, and cancer.
4. Sickle cell anemia: This is a genetic disorder that affects the structure of hemoglobin and causes red blood cells to be shaped like crescents or sickles.
5. Thalassemia: This is a genetic disorder that affects the production of hemoglobin and can cause anemia, fatigue, and other health problems.

The symptoms of anemia can vary depending on the type and severity of the condition. Common symptoms include fatigue, weakness, pale skin, shortness of breath, and dizziness or lightheadedness. Anemia can be diagnosed with a blood test that measures the number and size of red blood cells, as well as the levels of hemoglobin and other nutrients.

Treatment for anemia depends on the underlying cause of the condition. In some cases, dietary changes or supplements may be sufficient to treat anemia. For example, people with iron-deficiency anemia may need to increase their intake of iron-rich foods or take iron supplements. In other cases, medical treatment may be necessary to address underlying conditions such as kidney disease or cancer.

Preventing anemia is important for maintaining good health and preventing complications. To prevent anemia, it is important to eat a balanced diet that includes plenty of iron-rich foods, vitamin C-rich foods, and other essential nutrients. It is also important to avoid certain substances that can interfere with the absorption of nutrients, such as alcohol and caffeine. Additionally, it is important to manage any underlying medical conditions and seek medical attention if symptoms of anemia persist or worsen over time.

In conclusion, anemia is a common blood disorder that can have significant health implications if left untreated. It is important to be aware of the different types of anemia, their causes, and symptoms in order to seek medical attention if necessary. With proper diagnosis and treatment, many cases of anemia can be successfully managed and prevented.

The condition is inherited in an X-linked recessive pattern, meaning that the gene for G6PD deficiency is located on the X chromosome and affects males more frequently than females. Females may also be affected but typically have milder symptoms or may be carriers of the condition without experiencing any symptoms themselves.

G6PD deficiency can be caused by mutations in the G6PD gene, which can lead to a reduction in the amount of functional enzyme produced. The severity of the condition depends on the specific nature of the mutation and the degree to which it reduces the activity of the enzyme.

Symptoms of G6PD deficiency may include jaundice (yellowing of the skin and eyes), fatigue, weakness, and shortness of breath. In severe cases, the condition can lead to hemolytic anemia, which is characterized by the premature destruction of red blood cells. This can be triggered by certain drugs, infections, or foods that contain high levels of oxalic acid or other oxidizing agents.

Diagnosis of G6PD deficiency typically involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Treatment is focused on managing symptoms and preventing complications through dietary modifications, medications, and avoidance of triggers such as certain drugs or infections.

Overall, G6PD deficiency is a relatively common genetic disorder that can have significant health implications if left untreated. Understanding the causes, symptoms, and treatment options for this condition is important for ensuring appropriate care and management for individuals affected by it.

Autoimmune hemolytic anemia (AIHA) is a specific type of hemolytic anemia that occurs when the immune system mistakenly attacks and destroys red blood cells. This can happen due to various underlying causes such as infections, certain medications, and some types of cancer.

In autoimmune hemolytic anemia, the immune system produces antibodies that coat the surface of red blood cells and mark them for destruction by other immune cells called complement proteins. This leads to the premature destruction of red blood cells in the spleen, liver, and other organs.

Symptoms of autoimmune hemolytic anemia can include fatigue, weakness, shortness of breath, jaundice (yellowing of the skin and eyes), dark urine, and a pale or yellowish complexion. Treatment options for AIHA depend on the underlying cause of the disorder, but may include medications to suppress the immune system, plasmapheresis to remove antibodies from the blood, and in severe cases, splenectomy (removal of the spleen) or bone marrow transplantation.

In summary, autoimmune hemolytic anemia is a type of hemolytic anemia that occurs when the immune system mistakenly attacks and destroys red blood cells, leading to premature destruction of red blood cells and various symptoms such as fatigue, weakness, and jaundice. Treatment options depend on the underlying cause of the disorder and may include medications, plasmapheresis, and in severe cases, splenectomy or bone marrow transplantation.

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 ...
This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia ... Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders. Basically classified by ... medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Archived 2016-09-19 at the Wayback Machine Retrieved ... types of congenital hemolytic anemia include:[citation needed] Genetic conditions of RBC Membrane Hereditary spherocytosis ...
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 ...
... congenital MeSH C16.320.070.100 - anemia, hemolytic, congenital nonspherocytic MeSH C16.320.070.150 - anemia, sickle cell MeSH ... anemia, Diamond-Blackfan MeSH C16.320.077.280 - fanconi anemia MeSH C16.320.099.037 - activated protein C resistance MeSH ... congenital MeSH C16.131.621.551 - Klippel-Feil syndrome MeSH C16.131.621.585 - limb deformities, congenital MeSH C16.131. ... congenital MeSH C16.131.621.585.512 - lower extremity deformities, congenital MeSH C16.131.621.585.600 - polydactyly MeSH ...
... congenital MeSH C15.378.071.141.150.100 - anemia, hemolytic, congenital nonspherocytic MeSH C15.378.071.141.150.150 - anemia, ... anemia, hemolytic, autoimmune MeSH C15.378.071.141.150 - anemia, hemolytic, congenital MeSH C15.378.071.141.150.095 - anemia, ... anemia, diamond-blackfan MeSH C15.378.071.085.080.280 - fanconi anemia MeSH C15.378.071.141 - anemia, hemolytic MeSH C15.378. ... anemia, aplastic MeSH C15.378.190.196.080 - anemia, hypoplastic, congenital MeSH C15.378.190.196.080.090 - anemia, diamond- ...
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 ...
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 ...
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, ...
Anemia, Hemolytic, Congenital Nonspherocytic. Hernia/surgery. Herniorrhaphy. Hypoglossal Nerve/injuries. Hypoglossal Nerve ...
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. History Note. ... Anemia [C15.378.071] * Anemia, Hemolytic [C15.378.071.141] * Anemia, Hemolytic, Congenital [C15.378.071.141.150] * Anemia, ... Hemolytic Anemia, Congenital Nonspherocytic Public MeSH Note. 91,68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was ...
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... Anemia, Congenital Nonspherocytic Hemolytic. Anemia, Hemolytic Congenital, Nonspherocytic. Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. ... 91(82)68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was heading 1968-81; was ANEMIA, CONGENITAL NONSPHEROCYTIC ...
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. History Note. ... Anemia [C15.378.050] * Anemia, Hemolytic [C15.378.050.141] * Anemia, Hemolytic, Congenital [C15.378.050.141.150] * Anemia, ... Hemolytic Anemia, Congenital Nonspherocytic Public MeSH Note. 91,68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was ...
Anemia, Hemolytic, Congenital Nonspherocytic 1 0 Brain Injuries 1 0 Chronic Disease 1 0 ...
... anemia, hemolytic, congenital MeSH C15.378.071.141.150.095 - anemia, ... anemia, hemolytic, congenital nonspherocytic MeSH ... AnemiaAnemia, AplasticAnemia, HemolyticFanconi AnemiaAnemia, Hemolytic, AutoimmuneAnemia, HypochromicAnemia, MacrocyticAnemia, ... AnemiaAnemia, AplasticAnemia, HemolyticFanconi AnemiaAnemia, Hemolytic, AutoimmuneAnemia, HypochromicAnemia, MacrocyticAnemia, ... Congenital Hypoplastic Anemia Congenital Hypoplastic Anemias Hypoplastic Anemia, Congenital Hypoplastic Anemias, Congenital ...
Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition ... Anemia Hemolítica Congênita não Esferocítica , Adulto , Anemia Hemolítica Congênita não Esferocítica/complicações , Anemia ... Anemia Hemolítica Congênita não Esferocítica/diagnóstico , Anemia Hemolítica Congênita não Esferocítica/genética , Anemia ... which leads to lifelong hemolytic anemia and associated complications from the disease and its management. METHODS: An ...
Anemia, Hemolytic, Congenital Nonspherocytic. *Animals. *Antibodies, Monoclonal. *Aspartate Aminotransferases. *Astrocytes. * ...
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency, see Triosephosphate isomerase ... Hypomyelination and congenital cataract. *Hypomyelination with brain stem and spinal cord involvement and leg spasticity, see ... HSAN type IV, see Congenital insensitivity to pain with anhidrosis. *HSAN type V, see Hereditary sensory and autonomic ... Hereditary familial congenital hemorrhagic nephritis, see Alport syndrome. *Hereditary ferritinopathy, see Neuroferritinopathy ...
It is the most common inherited cause of non-spherocytic hemolytic anemia. C97090 Amino Acid Metabolism Disorder C131630 Anemia ... C2869 Anemia C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C98898 Congenital ... C C34376 Hemolytic Anemia Hemolytic Anemia Anemia resulting from the premature destruction of the peripheral blood red cells. ... C34376 Hemolytic Anemia C34379 Hereditary Hemolytic Anemia C99147 Neonatal Research Network Terminology C C34676 Sickle Cell- ...
Congenital C16.320.70.95 Anemia, Hemolytic, Congenital C16.320.70 Anemia, Hemolytic, Congenital Nonspherocytic C16.320.70.100 ... Congenital C16.320.590 Mycology H1.158.273.540.553 Myelinolysis, Central Pontine C10.228.140.163.165.539 C10.228.140.163.560 ... Congenital C16.466.775 C16.320.775 Palladium D1.268.956.718 Papaver B6.560.671 B6.388.100.790.500 Papillomavirus B4.280.570.460 ... Congenital C16.320.33 Adrenoleukodystrophy C10.228.140.163.474.475.600.100 C10.228.140.163.100.680.100 C10.228.140.163.474.649. ...
... hemolytic nonspherocytic (hereditary), type I Favism 282.3 Other hemolytic anemias due to enzyme deficiency Anemia: hemolytic ... Congenital anemia Anemia following fetal blood loss Excludes: anemia due to isoimmunization (773.-) hereditary hemolytic ... hemolytic disease of newborn (773.-) 283.1 Non-autoimmune hemolytic anemias Hemolytic anemia: Hemolytic anemia: mechanical ... Unspecified Hereditary hemolytic anemia NOS 283 Acquired hemolytic anemias 283.0 Autoimmune hemolytic anemias Autoimmune ...
Anemia, nonspherocytic hemolytic, due to G6PD deficiency. 1 test. Angelman syndrome. 5 tests. ... Congenital adrenal hypoplasia, X-linked. 5 tests. Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of ... Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. 1 test. Congenital lipoid adrenal hyperplasia due to STAR deficency. ... Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1 test. Cleft lip/palate-ectodermal dysplasia syndrome ...
Firm delineation of multiple forms of glycogen storage disease and of hereditary nonsphero- cytic hemolytic anemia is now ... With few congenital disorders does the state of knowledge permit a designation based on specific etiology or pathogenetic ... spherocytic hemolytic anemia due to glucose-6-phos- phate dehydrogenase deficiency,"6 and that due to pyru- vate kinase ... One need only recall that a century ago, symptoms such as jaundice, dropsy and anemia were viewed as entities, in much of ...
Anemia, Hemolytic Anemia, Hemolytic, Autoimmune Anemia, Hemolytic, Congenital Anemia, Hemolytic, Congenital Nonspherocytic ... Anemia, Hypochromic Anemia, Hypoplastic, Congenital Anemia, Iron-Deficiency Anemia, Macrocytic Anemia, Megaloblastic Anemia, ... Anemia Anemia, Aplastic Anemia, Diamond-Blackfan Anemia, Dyserythropoietic, Congenital ... Myelophthisic Anemia, Neonatal Anemia, Pernicious Anemia, Refractory Anemia, Refractory, with Excess of Blasts Anemia, Sickle ...
... for the treatment of inherited nonspherocytic hemolytic anemia, including PK deficiency. PK deficiency is caused by an ... Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of ... Novel Activators of Pyruvate Kinase for the Treatment of Hemolytic Anemias *Read more about Novel Activators of Pyruvate Kinase ... The prematurely lysed red blood cells can lead to jaundice, splenomegaly, and a hemolytic anemia. ...
Anemia, Hemolytic, Congenital. *Anemia, Dyserythropoietic, Congenital. *Anemia, Hemolytic, Congenital Nonspherocytic. *Anemia, ... Anemia, Hemolytic [C15.378.071.141]. *Anemia, Hemolytic, Congenital [C15.378.071.141.150]. *Glucosephosphate Dehydrogenase ...
Nonspherocytic hemolytic anemia, Splenome.... OMIM:235700. Anemia, Congenital Dyserythropoietic, Type Iv. ... Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia.... ORPHA:288. Rh Deficiency ... Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia. ORPHA:846. Hemolytic Uremic ... Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis. OMIM:300653. Severe Congenital Hypochromic Anemia With Ringed ...
"Red cell aldolase deficiency and hemolytic anemia: a new syndrome". Trans Assoc Am Physicians. 86: 154-66. PMID 4788792.. CS1 ... The congenital neuromuscular subtype presents in the newborn period with severe hypotonia, decreased reflexes, and dilated ... "Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency". Blood. 39 (3): 415-25. PMID 4258222 ... hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency". Am J Med ...
... deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI ... Anemia, Hemolytic, Congenital Nonspherocytic / genetics* Actions. * Search in PubMed * Search in MeSH ... Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese ... Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous ...
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... Anemia, Congenital Nonspherocytic Hemolytic. Anemia, Hemolytic Congenital, Nonspherocytic. Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. ... 91(82)68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was heading 1968-81; was ANEMIA, CONGENITAL NONSPHEROCYTIC ...
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities From NCATS Genetic and Rare Diseases ... Congenital hemolytic anemia From NCATS Genetic and Rare Diseases Information Center Warm antibody hemolytic anemia From NCATS ... Nonspherocytic hemolytic anemia due to hexokinase deficiency From NCATS Genetic and Rare Diseases Information Center ... Autoimmune hemolytic anemia From NCATS Genetic and Rare Diseases Information Center ...
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism Active Synonym false false ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Active Synonym false false ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder). Code System Preferred Concept Name. ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder). Concept Status. Published. ...
Nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency, see Glucose phosphate isomerase deficiency ... Night blindness, congenital stationary, autosomal dominant, see Autosomal dominant congenital stationary night blindness ... Nonbullous congenital ichthyosiform erythroderma. *Nonbullous ichthyosiform erythroderma, see Nonbullous congenital ... Non-Shiga-like toxin-associated HUS, see Atypical hemolytic-uremic syndrome. *Non-skeletal hyper-IgE syndrome, see DOCK8 ...
... favism and also a haemolytic disease which is probably congenital, non-spherocytic anaemia. These have the same distribution ... or in patients who have haemolytic anaemia and who are always in a phase of reticulocytosis. Ceppellini: A problem which is ... I think it would be worth investigating it in individuals after a haemolytic episode where there was a large amount of ...
Hemolytic anemia, such as autoimmune hemolytic anemia, hereditary spherocytosis, or nonspherocytic congenital hemolytic anemia ... hemolytic anemia and aplastic anemia can manifest as normochromic and normocytic anemia or macrocytic anemia; anemia of chronic ... sideroblastic anemia can be microcytic anemia, macrocytic anemia, or normochromic and normocytic anemia (due to the presence of ... 2] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into ...
Hemolytic anemia, such as autoimmune hemolytic anemia, hereditary spherocytosis, or nonspherocytic congenital hemolytic anemia ... hemolytic anemia and aplastic anemia can manifest as normochromic and normocytic anemia or macrocytic anemia; anemia of chronic ... sideroblastic anemia can be microcytic anemia, macrocytic anemia, or normochromic and normocytic anemia (due to the presence of ... 2] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into ...
A hemolytic anemia will develop if bone marrow activity cannot compensate for the erythrocyte loss. ... Haley K. Congenital Hemolytic Anemia. Med Clin North Am. 2017 Mar. 101 (2):361-374. [QxMD MEDLINE Link]. ... Glucose-6-phosphate dehydrogenase Guadalajara--a case of chronic non-spherocytic haemolytic anaemia responding to splenectomy ... encoded search term (Hemolytic Anemia) and Hemolytic Anemia What to Read Next on Medscape ...
... toxoids retinomas dextra emaciation dysbasia safes safer trinder trinden dermatophytic cupriavidus invoice congenital referable ... benzoylaconine otherwise equidae microct phtf1 trimethoxystyryl normative cystoid manage protactinium tryptic anemic anemia ... stansel blankophor ppp2r5c ppp2r5a calderon picolinamide sinapoylmalate norcholest propargylxanthine paraphrenia nonspherocytic ... alphafetoprotein trochanter hydroxyheptanoic pungitii fluorovinyl golfer phylloquinone alabamica leptinotarsin coiled hemolytic ...
  • 16. [Defects in erythrocyte glycolysis enzymes as the cause of nonspherocytic hemolytic anemia]. (nih.gov)
  • Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia]. (nih.gov)
  • 6. [PK deficiency of erythrocytes as cause of hemolytic anemia]. (nih.gov)
  • 13. [Hemolytic anemia caused by pyruvate kinase deficiency and pregnancy]. (nih.gov)
  • 19. [Congenital hemolytic anemia with pyruvate-kinase deficiency]. (nih.gov)
  • hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency]. (nih.gov)
  • BACKGROUND: Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (bvsalud.org)
  • BACKGROUND: Hereditary spherocytosis (HS) and pyruvate kinase deficiency (PKD) are the most common causes of hereditary chronic hemolytic anemia. (bvsalud.org)
  • Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. (bvsalud.org)
  • Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (lookformedical.com)
  • 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. (sdsu.edu)
  • A hereditary X-linked recessive sideroblastic anemia with variable age of onset and severity. (nih.gov)
  • 11. [Pyruvate kinase activity of erythrocytes in hereditary non-spherocytic hemolytic anemias]. (nih.gov)
  • C34376 Hemolytic Anemia C34379 Hereditary Hemolytic Anemia C99147 Neonatal Research Network Terminology C C34676 Sickle Cell-Hemoglobin C Disease Hemoglobin SC Disease Sickle Cell-Hemoglobin C Disease A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. (nih.gov)
  • 1. [Familial chronic jaundice caused by nonspherocytic hemolytic anemia, with increase of erythrocyte pyruvate kinase]. (nih.gov)
  • A rare congenital hypoplastic anemia that usually presents early in infancy. (nih.gov)
  • It causes chicken infectious anemia and may possibly play a key role in hemorrhagic anemia syndrome, anemia dermatitis, and blue wing disease. (lookformedical.com)
  • Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. (nih.gov)
  • 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. (nih.gov)
  • He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (bvsalud.org)
  • A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). (lookformedical.com)
  • Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. (lookformedical.com)
  • Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). (lookformedical.com)
  • The disease is characterized by a moderate to severe macrocytic anemia , occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (nih.gov)
  • A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy. (lookformedical.com)
  • Aberrant splicing contributes to severe a-spectrin-linked congenital hemolytic anemia. (umassmed.edu)
  • The congenital neuromuscular subtype presents in the newborn period with severe hypotonia , decreased reflexes , and dilated cardiomyopathy . (wikidoc.org)
  • 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). (nih.gov)
  • An acquired, congenital , or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. (nih.gov)
  • Hemolytic anemia due to various intrinsic defects of the erythrocyte. (nih.gov)
  • Hemolytic Anemia due to Membrane Defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. (nih.gov)
  • A group of inherited hemolytic anemias caused by erythrocyte membrane defects. (nih.gov)
  • 3. [Physico-chemical and kinetic properties of pyruvate kinase in erythrocytes in enzymopathic hemolytic anemia]. (nih.gov)
  • A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS. (lookformedical.com)
  • C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C34345 Achondroplasia Achondroplasia An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. (nih.gov)
  • Anemia, Hemolytic, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • 15. [Congenital non spherocytic hemolytic anemia caused by pyruvate kinase abnormalities]. (nih.gov)
  • It is characterized by (1) hypochromic microcytic anemia with microcytic and normocytic populations of RED BLOOD CELLS, (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors, (3) a variable hematologic response to pharmacologic doses of PYRIDOXINE, and (4) systemic iron overload secondary to chronic ineffective ERYTHROPOIESIS. (nih.gov)
  • 2. [A case of nonspherocytic hemolytic anemia caused by deficient activity of erythrocyte pyruvate kinase]. (nih.gov)
  • In addition, after 6 years of clinical follow-up of the patients with HS, it can be inferred that the chronic hemolytic anemia may be attributable to the SPTB mutation only, without influence of the concomitant PKLR. (bvsalud.org)
  • A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (lookformedical.com)
  • Based on clinical features and age of onset, the neuromuscular type can be further divided into four forms including perinatal form, congenital form, late childhood form, and the adult form. (wikidoc.org)
  • In diseases due to or associated with anemia. (nih.gov)
  • Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow. (lookformedical.com)
  • A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. (lookformedical.com)
  • The semantics of a concept in a terminology is repre- cific forms of anemia (e.g., "acquired aplastic ane- sented through multiple facets [1]. (nih.gov)
  • A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. (lookformedical.com)
  • chronic anemia (43742007)1 would be retrieved provided by browsers and terminology servers3. (nih.gov)
  • Chronic anemia (191268006). (nih.gov)
  • A naive approach would be to search for those pa- tients whose diagnosis is exactly Anemia. (nih.gov)
  • Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS. (lookformedical.com)
  • Studies concerning 28 cases with congenital hemolytic anemia]. (nih.gov)
  • Ideally, the intensional and extensional representa- related to anemia, but not itself necessarily a specific tions are equivalent, while the lexical representation type of anemia. (nih.gov)
  • An 8-year-old Chinese male child was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. (bvsalud.org)
  • This graph shows the total number of publications written about "Anemia, Hemolytic, Congenital" by people in this website by year, and whether "Anemia, Hemolytic, Congenital" was a major or minor topic of these publications. (umassmed.edu)
  • Health professionals are faced with challenges when tions of concepts in SNOMED CT through the exam- they have to exploit the semantics of concepts present ple of the concept Anemia (271737000). (nih.gov)
  • Finally, the burden on users have been retrieved here if the associated value had is compounded by the fact that several approaches been restricted to the concept Anemia itself, not in- must be used and their results combined. (nih.gov)
  • Below are the most recent publications written about "Anemia, Hemolytic, Congenital" by people in Profiles. (umassmed.edu)

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