A case of hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency.
A propositus, the offspring of a first-cousin marriage, was presented with severe hemolytic anemia, splenomegaly, jaundice, and growth retardation. Marked basophilic stippling of erythrocytes was shown by Wright's stain. Erythrocyte 5'-nucleotidase activity was found markedly decreased, whereas red blood cell glucose-6-phosphate dehydrogenase activity was elevated as the reduced glutathione level. His growth and anemia improved following splenectomy. His sister was also similarly affected.
D015720:5'-Nucleotidase; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D013156:Splenectomy; D013577:Syndrome
D009708:Nucleotidases; D015720:5'-Nucleotidase