Archivos de investigacion medica · 1979
Hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency.
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Olivares N, Medina C, Sánchez-Corona J, Rivas F, Rivera H, Hernández A, Delgado J L, Ibarra B, Cantú J M, Vaca G, Martínez C
Аннотация
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.