[Deficiency of glucose-6-phosphate dehydrogenase in a family].
The erytrocyte glucose-6-phosphate deshydrogenase (G6PD) identification and activity were determinated in all member of a family, which was selected because one of the sons showed the clinical signs of hemolitic anemia due to G6PD deficiency and this was confirmed by qualitative fluorescent test, enzyme activity quantification and electrophoretic runs. It was found that two clinically healthy brothers are G6PD deficients and that the mother and one sister are carriers of this enzimatyc defect of the A--variant. As an antecedent it was found that the propositus mother received chloramphenicol treatment for ten days during the first three months of pregnancy. The advantages of the opportune enzymatic studies, with the objective to avoid hemolitic crisis in those G6PD deficient persons, are commented.
Gónzalez-Quiroga
G
G
Rico-Bazaldua
G
G
Ibarra
B
B
Vaca
G
G
Garza-Chapa
R
R
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase
Deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD) en una familia.