title: [Deficiency of glucose-6-phosphate dehydrogenase in a family].
abstract: 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.
authors.forename: G
authors.initials: G
authors.lastname: Gónzalez-Quiroga
authors.forename: G
authors.initials: G
authors.lastname: Rico-Bazaldua
authors.forename: B
authors.initials: B
authors.lastname: Ibarra
authors.forename: G
authors.initials: G
authors.lastname: Vaca
authors.forename: R
authors.initials: R
authors.lastname: Garza-Chapa
mesh_terms: 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
chemical_list: D005954:Glucosephosphate Dehydrogenase
vernacular_title: Deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD) en una familia.