title: A case of red-cell adenosine deaminase overproduction associated with hereditary hemolytic anemia found in Japan.
abstract: A case of red cell adenosine deaminase (ADA) overproduction associated with hereditary hemolytic anemia is reported here. This appears to be the second report. Proband is a 38-year-old Japanese male who had hemoglobin, 15.8 g/100 ml; reticulocyte count, 4.5%; serum indirect bilirubin, 4.9 mg/100 ml; 51Cr-labeled red cell half-life, 12 days; red cells showed moderate stomatocytosis. His red cell ADA activity showed 40-fold increase while that of the mother showed 4-fold increase. The mother was hematologically normal. The father had a normal enzyme activity. The proband and the mother showed slightly high serum uric acid levels. The proband's red cell showed: ATP, 628 nmoles/ml (normal, 1,010--1,550); adenine nucleotide pool, 46% of the normal mean; 2,3-diphosphoglycerate content, 3,782 nmoles/ml (normal 4,170--5,300); increased oxygen affinity of hemoglobin, P50 of intact erythrocytes being 21.8 mmHg (normal, 24.1--26.1). Red cell glycolytic intermediates in the proband were low in general, and the rate of lactate production was low. Kinetic studies using crude hemolysate revealed a normal Km for adenosine, normal electrophoretic mobility but slightly abnormal pH curve and slightly low utilization of 2-deoxyadenosine. The ADA activity of lymphocytes was nearly normal.
mesh_terms: D000243:Adenosine Deaminase / Q000097:blood*; D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D006019:Glycolysis; D006801:Humans; D007564:Japan; D007700:Kinetics; D007773:Lactates / Q000097:blood; D008297:Male; D009700:Nucleoside Deaminases / Q000097:blood*
chemical_list: D007773:Lactates; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase