Hereditary haemolytic anaemia due to red cell pyrimidine 5'-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy.
Hereditary haemolytic anaemia with basophilic stippling caused by pyrimidine 5'-nucleotidase deficiency is described in three members of two unrelated Irish families. In one family, the disease was moderately severe and the patient's condition was improved by splenectomy. In the other family the haemolytic anaemia was well compensated. In neither family was there a marked elevation of reduced glutathione. The implications are that pyrimidine 5'-nucleotidase deficiency is a heterogeneous disorder, both clinically and biochemically. In more severe forms splenectomy may be beneficial.
D015720:5'-Nucleotidase; D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009708:Nucleotidases / Q000097:blood / Q000172:deficiency*; D013156:Splenectomy
D009708:Nucleotidases; D015720:5'-Nucleotidase