ENZYME DEFICIENCY IN ERYTHROCYTES IN CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA

Abstract

Two cases of congenital nonspherocytic hemolytic anemia are reported. The patients were brothers and both showed severe metabolic defects in the erythrocytes, consisting of a low content of reduced glutathione, markedly abnormal reduced glutathione stability test, and a very low activity of glucose-6-phosphate dehydrogenase. These metabolic defects were also found in the erythrocytes from the mother but to a milder degree. While both children showed evidences of chronic hemolytic anemia, the mother was found to be healthy. This clinical discrepancy between mother and children is thought to be the result of the degree of the severity of the metabolic defects. The occurrence of the chronic hemolytic process in these patients in the absence of exposure to drugs indicates that the erythrocyte deficient in glucose-6-phosphate dehydrogenase does not necessarily require the injurious effect of a drug to undergo hemolysis. In view of the above findings, it is suggested that reduced glutathione stability test and an assay of glucose-6-phosphate dehydrogenase be performed in all instances where the diagnosis of congenital nonsphenocytic hemolytic anemia is made.