Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.

نویسنده

  • M ANDERSCH
چکیده

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Genetic diversity of the "Mediterranean" glucose-6-phosphate dehydrogenase deficiency phenotype.

Genetic diversity of the "Mediterranean" phenotype of G-6-PD (glucose-6-phosphate dehydrogenase) deficiency was revealed when detailed studies were performed on blood specimens from 79 Greek males with G-6-PD levels 0-10% of normal. Four different mutants were found to be responsible for the severely deficient phenotypes: two mutants. G-6-PD U-M (Union-Markham) and G-6-PD Orchomenos, were disti...

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Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: sex distribution.

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.

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A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.

I T HAS BECOME increasingly apparent that many forms of hemolytic disease are due to hereditary enzyme deficiencies affecting the erythrocytes. The drug-induced hemolytic anemias may be due to glucose-fl-phosphate dehydrogenase (G-6-PD ) deficiency, glutathione reductase (GSSG-R) deficiency, or to a deficiency in reduced glutathione (GSFI ). Nonspherocytic congenital hemolytic anemia may be due...

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Diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in the negro male despite hemolytic crisis.

E RYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE ( G-6PD ) DEFICIENCY is a frequent clinically-significant genetically-determined abnormality of man. On the basis of gene frequency of the enzyme deficiency, about 3,000,000 Negroes in the United States carry genes for this disorder.1 When exposed to certain drugs and chemical agents, clinically normal persons with G-6-PD deficiency experience hemo...

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Glucose-6-phosphate dehydrogenase deficiency.

Out of 20 patients with viral hepatitis whose glucose-6phosphate dehydrogenase (G-6-PD) levels were normal, 14 had clinical evidence of a mild to moderate degree of haemolysis but in all the patients studied the half life of chromium-51-labelled red cells was shortened. Out of 18 viral hepatitis patients deficient in G-6-PD 17 had clinical evidence of haemolysis, and in eight this was more seve...

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عنوان ژورنال:
  • Maryland state medical journal

دوره 12  شماره 

صفحات  -

تاریخ انتشار 1963