Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay

Abstract

Erythrocyte superoxide dismutase (SOD) E.C.1.15.1 levels were quantitated in human hemolysates, by an immunological techique and by an activity assay. The erythrocyte SOD acitivity level in a group of 7 Fanconi''s anemia patients was significantly decreased (27%, on the average) compared to a control group of 19 healthy individuals. The activity per antigenic unit and the electrophoretic mobility of the erythrocyte SOD was normal, indicateing that the deficiency in these Fanconi''s anemia patients was probably not due to mutation in the structural gene for the enzyme but more likely due to a disturbed mechanism regulating the SOD level in the erythrocyte.