A family with red cell pyrimidine 5'-nucleotidase deficiency.
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.
D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D002675:Child, Preschool; D004912:Erythrocytes / Q000032:analysis / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000097:blood / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics
D009708:Nucleotidases