Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glucose 6 phosphate dehydrogenase (G6PDH) deficiency is the most frequent cause of hemolytic anemias due to enzyme abnormality. Perioperative management must be careful to avoid the onset of hemolytic crisis. We present a complete review of the literature on this illness and describe the perioperative management of an adult with known G6PD deficiency and the pathogenesis and clinical manifestations of the disorder and its possible anesthetic implications are discussed. A 49-year-old patient had undergone varum osteotomy in her left knee due to genu valgum. She had been diagnosed as having G6PDH deficiency sixteen years earlier provoked by ingesting beans. The perioperative circumstances capable of causing autohemolysis are described and discussed. In spite of the fact that the pattern is self-limited, it provokes the onset of jaundice and anemia which can complicate the recovery. Simple elimination of those elements which precipitate with oxyhemoglobin will allow an uneventful anesthetic procedure.
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PMID:Perioperative management of glucose 6 phosphate dehydrogenase deficiency. A review of the literature. 1052 35

Various blood indices vary in a newborn as compared to older child or adult. It depends on the gestational age, day of life, maternal factors, mode of delivery and site of blood collection. Hemoglobin, HCT & MCV tend to be higher in newborns. They further increase in first 2 days of life. Reticulocytosis and presence of nucleated red cells are normally seen in first week of life. Neonatal anemia is a common problem in NICU. It is usually caused by either hemorrhage or hemolysis and rarely due to decreased production. Hemorrhage can be ante or intra or post natal and it could be external or internal. It could be acute or chronic. Management of acute severe hemorrhage includes packed cell transfusion. Hemolysis is usually due to isoimmune hemolysis, G6PD deficiency or rarely due to the hemoglobinopathy like alpha-thalassemia or due to spherocytosis. Usually patients will have indirect hyperbilirubinemia which needs phototherapy or exchange transfusion. Rarely congenital pure red cell aplasia can present at birth with physical anomalies and anemia. Treatment of neonatal anemia depends on the arteriology.
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PMID:Anemia in newborn. 1077 20

Glukose-6-phosphate dehydrogenase (G6PD) is essential in protecting the red cell from oxidative damage. We report a case of acute haemolysis in a child with G6PD deficiency. Because of the severity of the anaemia, the patient was treated with blood transfusions and recovered fully. There are two main variants of G6PD deficiency (the Mediterranean variant and variant A) with different clinical profiles. Acute haemolytic attacks are induced by certain drugs, by infections or, in the Mediterranean variant, by ingestion of fava beans (favism). Increased awareness of this condition is necessary in Denmark because of increased immigration.
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PMID:[Acute hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency]. 1077 18

The aetiology and complications of exchange transfusion (ET) were studied over a 6-year period in northern Jordan. During that time, 336 neonates (0.46% of total live births) underwent 386 ETs. There was a yearly reduction in the number of ETs, varying from 8.2% in the 1st year of the study to 2.7% in the last year. Thirty-nine (11.9%) required more than one ET. Twenty-five (7.4%) were preterm babies and the remainder full-term. The commonest cause of ET overall was G6PD deficiency, either alone or concomitant with ABO incompatibility (38.1%). ET complications occurred in 51 neonates (15.2%), the commonest being anaemia and bradycardia. Septicaemia occurred in only 3% of cases. Only one baby died. G6PD deficiency, either alone or concomitant with ABO isoimmunization, is the most common cause of ET in northern Jordan. Fewer preterm babies require ET and there is a low incidence of septicaemia following ET.
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PMID:Neonatal exchange transfusion: a Jordanian experience. 1082 15

A rare case of hereditary erythrocyte enzymopathy, namely 6-phosphogluconate dehydrogenase (6PGD) deficiency, was found in an Italian family. The activity of the enzyme was reduced to 35% in the propositus and her mother, but was normal in the other three members of the family. The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother. Increased levels of erythrocyte pyruvate kinase (PK) activity and reduced glutathione (GSH) were observed, indicating a slight decrease in mean red blood cell (RBC) age and an activation of reducing systems. The episodic hemolytic events with jaundice observed in the propositus may be the result of a defective RBC ability to counteract conditions of marked oxidative stress. In this report the importance of 6PGD estimation for a proper analysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is also highlighted. In fact in the present study, the presence of 6PGD deficiency could be mistaken for a partial G6PD deficiency if the assay of G6PD activity was performed without correcting for 6PGD activity.
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PMID:6-Phosphogluconate dehydrogenase deficiency in an Italian family. 1123 75

Iron deficiency is a common cause of microcytic anaemia. However, a high prevalence of haemoglobinopathies in the Arab population makes differential diagnosis difficult. This prospective study of anaemia in children attending a regional hospital in the Sultanate of Oman looked at the prevalence and causes of anaemia in 256 children, 153 in the age group 3-5 years (group A) and 103 in the age group 10-12 years (group B). Of the children studied, 45.1% in group A and 37.9% in group B were anaemic according to WHO criteria. All the anaemic children had low mean corpuscular haemoglobin and 75% showed microcytosis. Serum ferritin levels were normal and glucose-6-phosphate dehydrogenase deficiency did not contribute to the anaemia. The microcytosis and microcytic anaemia in the study population could be attributed to the alpha-thalassaemia trait which is highly prevalent in Oman. The information is of value in any country where there is a significant prevalence of alpha-thalassaemia genes because these can confound the diagnosis of iron deficiency.
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PMID:High prevalence of microcytic anaemia in Omani children: a prospective study. 1128 46

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.
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PMID:Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. 1196 Sep 89

Hemolytic anemia as a complication of acute hepatitis is not uncommon in patients with glucose-6-phosphate dehydrogenase deficiency. However, severe hemolysis in these patients is rare. We report a cohort of five patients with acute viral hepatitis E who developed severe intravascular hemolysis and unusually high levels of bilirubin. All five patients had severe, complicated, protracted courses of illness. Four patients developed acute renal failure, and two of these required hemodialysis. To the best of our knowledge this is the first report of a cohort of patients with glucose-6-phosphate dehydrogenase deficiency and acute viral hepatitis E with severe intravascular hemolysis. We emphasize the fact that intravascular hemolysis should be suspected in patients with acute viral hepatitis E with marked bilirubinemia and anemia. Measures to prevent renal failure should be taken in such cases.
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PMID:Severe hemolysis and renal failure in glucose-6-phosphate dehydrogenase deficient patients with hepatitis E. 1209 81

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.
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PMID:Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. 1213 May 18

Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. Chronic haemolytic anaemia (CHA) associated with G6PD deficiency is rare, but there is a cluster of mutations causing CHA between amino acids 361-428 which are encoded by exon 10 of the G6PD gene. This region is involved in the dimer formation of the active G6PD enzyme and therefore plays an important role for enzyme stability and activity. Here, we report a 17-year-old patient with CHA, who carries a rare G --> A mutation at nucleotide 1160 which causes an R387H amino acid substitution. We review the reports of the seven previously described patients with this mutation, concluding that G6PD deficiency should be considered as a rare differential diagnosis of chronic haemolytic, non-spherocytic anaemia.
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PMID:Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature. 1218 30


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