A New Variant of Glucose-6-Phosphate Dehydrogenase Deficiency Hereditary Hemolytic Anemia, G6PD Cornell: Erythrocyte, Leukocyte, and Platelet Studies

A variant of glucose-6-phosphate-dehydrogenase 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 NADP was two to three 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.