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A family with red cell pyrimidine 5'-nucleotidase deficiency

I Ben-Bassat, F Brok-Simoni, G Kende, F Holtzmann and B Ramot

Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.

Volume 47, Issue 6, pp. 919-922, 06/01/1976
Copyright © 1976 by The American Society of Hematology


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  Copyright © 1976 by American Society of Hematology         Online ISSN: 1528-0020