Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.

Abnormalities of adenosine deaminase, a critical enzyme of the purine salvage pathway, have been reported in association with immune dysfunction, acute leukemia, and hereditary hemolytic anemia. We report data showing that erythrocyte adenosine deaminase activity is also abnormal in congenital hypoplastic anemia (the Diamond-Blackfan syndrome). Adenosine deaminase activity in erythrocytes from 12 patients (mean +/- S.D., 2.20 +/- 0.77 IU per gram of hemoglobin) was substantially greater than that observed in 50 controls (0.62 +/- 0.13 IU per gram). Enzyme activity in affected patients was also greater than that seen in cord blood or in erythrocytes from patients with hemolytic anemia, acquired aplastic anemia, Fanconi's hypoplastic anemia, acquired pure red-cell aplasia, or transient erythroblastopenia of childhood. These observations indicate that erythrocyte adenosine deaminase activity may be a unique marker for identifying congenital hypoplastic anemia.