Congenital Nonspherocytic Hemolytic Anemia

Authors:
  • HKHenry N. Kirkman
    Henry N. Kirkman
  • HRHarris D. Riley
    Harris D. Riley
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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 al1and by Ingram and Hunt2,3of the qualitative changes in sickle hemoglobin. Erythrocytic glucose-6-phosphate dehydrogenase (G-6-PD) has been studied in 2 varieties4,5of a hereditary defect of this enzyme, primaquine-sensitive hemolytic anemia,6-9and recently10a 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

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