Hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency.
Results are reported concerning quantitation of glucose -6- phosphate dehydrogenase (G6PD) enzyme activity where in one of the members of a family a clinical diagnosis of acute hemolytic anemia due to G6PD deficiency had been established. In the propositus, G6PD levels were found to be less than 10 per cent thus confirming diagnosis; the same enzymatic deficiency was identified in one of the siblings without a history of hematologic pathology and in a maternal cousin with a history of neonatal jaundice as well as two obliged carriers. Electrophoretical enzyme phenotype was similar to A variant in three affected males. Advantages of prevention and medical care possible with early diagnosis of G6PD deficiency are discussed.
D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000209:etiology / Q000235:genetics; D002648:Child; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree