A new variant of glucose 6 phosphate dehydrogenase deficiency, hereditary hemolytic anemia, G6PD Cornell: erythrocyte, leukocyte, and platelet studies

Abstract

A variant of glucose 6 phosphate dehydrogenase (G6PD) deficiency associated with chronic hereditary hemolytic anemia was discovered in a 9 yr old white male. The erythrocytes contained 5% of normal enzyme activity, the Km nicotinamide adenine dinucleotide phosphate (NADP) was 2 to 3 times normal, the pH optimum was decreased, and the heat stability was markedly decreased. The Km G6PD, electrophoretic mobility (B), and utilization of substrate analogues 2 deoxy G6P and deamino NADP were normal. The activity of G6PD in the leukocytes and platelets was 15% and 28% of normal values, respectively, but bactericidal activity and platelet function were unaffected by the deficiency of G6PD.