A family with red cell pyrimidine 5' nucleotidase deficiency

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

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Congenital hemolytic anemia associated with pyrimidine 5' nucleotidase deficiency is reported in 2 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.

Original languageEnglish
Pages (from-to)919-922
Number of pages4
JournalUnknown Journal
Issue number6
StatePublished - 1976
Externally publishedYes


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