Congenital Nonspherocytic Hemolytic Anemia

Abstract

It has been well demonstrated in man and in other species that the fundamental expression of a hereditary chemical disorder may be the deletion of a single metabolic or enzymic step. The extent to which such loss in enzymic activity is due to dimimished amounts or to a qualitative inefficiency of the enzyme has been a matter of considable interest. The latter possibility has appeared particularly tenable since the outstanding demonstrations by Pauling, Itano, et al¹ and by Ingram and Hunt^2,3 of the qualitative changes in sickle hemoglobin. Erythrocytic glucose-6-phosphate dehydrogenase (G-6-PD) has been studied in 2 varieties^4,5 of a hereditary defect of this enzyme, primaquine-sensitive hemolytic anemia,^6-9 and recently¹⁰ a certain type of congenital nonspherocytic hemolytic anemia. Although the active G-6-PD in primaquinesensitive erythrocytes from Negro males is qualitatively similar, if not identical, to that from normal persons, the G-6-PD of a Caucasian male