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; ⁵¹ Cr‐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 crythrocytes 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.