FAMILY WITH RED-CELL PYRIMIDINE 5'-NUCLEOTIDASE DEFICIENCY

Abstract

Congenital hemolytic anemia associated with pyrimidine 5''-nucleotidase deficiency was reported in 2 siblings. Both had moderate chronic hemolytic anemia, splenomegaly and jaundice since early infancy. The peripheral blood smear was characterized by striking red cell basophilic stippling. As this feature was found in all previously reported cases, it should be the clue to the diagnosis.