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 withchronic hereditary hemolytic anemia wasdiscovered in a 9-yr-old white male. Theerythrocytes contained 5% of normalenzyme activity, the Km NADP was twoto three times normal, the pH optimumwas decreased, and the heat stabilitywas markedly decreased. The Km G6PD,electrophoretic mobility (B), and utilization of substrate analogues 2-deoxy-G6Pand deamino-NADP were normal. Theactivity of G6PD in the leukocytes andplatelets was 15% and 28% of normalvalues, respectively, but bactericidal activity and platelet function were unaffected by the deficiency of G6PD.

Submitted on September 10, 1973 Accepted on March 8, 1974