[Biology of glucose-6-phosphate dehydrogenase deficiency].
G-6-PD deficiency is predominant in the entire history of haemolytic anemias secondary to enzyme deficiency, since its represents, by far, the most frequent erythro-enzymopathy; it is also the most studied and the best known from the clinical as well as biological standpoints. Because of the ethnic groups particularly affected, this deficiency is essentially, in France, an imported pathology, even if there are a few true european cases. The biological diagnosis of the deficient patient is simple and well codified, but the interpretation of numerous variants of the enzyme remains quite complex. The recent cloning of the gene should provide a decisive progress in understanding these various deficiencies.
Vigneron
C
C
Centre Régional de Transfusion Sanguine, Vandoeuvre-les-Nancy.
D000743:Anemia, Hemolytic / Q000209:etiology; D005602:France; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D006801:Humans
D005954:Glucosephosphate Dehydrogenase
Biologie du déficit en glucose-6-phosphate deshydrogénase.