Abstract
A 2-year-old boy was referred as an outpatient to the University Hospital because of anemia. He was found to have a congenital hemolytic anemia. Several relatives had the same disease. Biochemical studies revealed an intraerythrocytic enzymic defect consisting in lowered activity of potassium-sodium-magnesium-sensitive ATPase (S-AtPase). Because of inhibition by digoxin this enzyme could be separated from the insensitive ATPase (I-ATPase). The ATP level in the erythrocytes normal. Autohemolysis in the patients was increased. Urea inhibition of ATPase in patients as well as in normal subjects showed similar values, suggesting that the deficiency in S-ATPase is due to reduced synthesis of the enzyme. Preliminary genetic studies have indicated that the defect is a sex-linked, recessive disorder.
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Cohn, J., Hanel, K. 62. Adenosine triphosphatase (AT Pasc) deficiency in a family with nonspherocytic hemolytic anemia. Pediatr Res 5, 96 (1971). https://doi.org/10.1203/00006450-197102000-00067
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DOI: https://doi.org/10.1203/00006450-197102000-00067