PEDIATRICS Vol. 37 No. 4 April 1966, pp. 624-629
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CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA ASSOCIATED WITH ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN A NEGRO FAMILY

Aaron Grossman M.D.1, K. Ramanathan M.B., B.S.1, Parvin Justice Ph.D.1, Joan Gordon A.B.1, Nasrollah T. Shahidi M.D.1, and David YI-Yung Hsia M.D.1

1 Pediatric Department, Mount Sinai Hospital and Department of Pediatrics, Chicago Medical School; the Genetic Clinic, Children's Memorial Hospital and the Department of Pediatrics, Northwestern University Medical School, Chicago, Illinois; the Kinderspital and the Department of Pediatrics. University of Zurich, Zurich, Switzerland.

This paper describes a Negro family with congenital nonspherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency.

All four affected males in this family showed a hemolytic anemia characterized by low hemoglobin, reticulocytosis, and jaundice. There was no detectable G-6-P D in the red cells and about a tenth of normal enzyme activity in the white cells. By starch gel electrophoresis, the G-6-P D was present as a single band which migrated at the rate of 104% of normal. Physico-chemical studies revealed a marked increase of the Michaelis constant for both G-6-P and TPN, a marked lability of the enzyme upon heating at 40°C and 48°C, and a single narrow peak at pH 9.0. Most of these features were similar to those seen in the Oklahoma I variant.

Four of the females in the family were studied (two sisters, the mother, and a maternal aunt of the propositus); all showed a lesser degree of anemia and reticulocytosis but no jaundice, except in the mother. There was a decrease of haptoglobins and both the mother and one sister showed a decrease of erythrocyte survival time as measured by chromium-51. The female members had between 11 and 26% of normal G-6-P D activity in the red cells and between 35 and 63% of normal enzyme activity in the white cells. Starch gel electrophoresis in the mother and aunt showed a single band which migrated at 110% of normal with a trail at the position of the affected males.

The presence of a milder degree of hemolysis in the heterozygous carriers of the gene for G-6-P D deficiency associated with congenital nonspherocytic hemolytic anemia provides further support for the Lyon hypothesis in man.

Submitted on April 23, 1965
Accepted on December 10, 1965