3 CASES OF HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA ASSOCIATED WITHRED-BLOOD-CELL GLUTATHIONE DEFICIENCY

Three unrelated Japanese patients with chronic nonspherocytic hemolyti c anemia were found to have marked deficiency of red blood cell (RBC) reduced glutathione (GSH) (4.4%, 13.1%, and 6.9% of normal, respective ly). A panel of RBC enzyme assays showed that one patient had decrease d glutathione synthetase activity and the other two were moderately de ficient in gamma-glutamylcysteine synthetase. Some family members of e ach patient showed mild deficiency of the respective enzymes. RBCs of these patients also showed a decreased level of glutathione-S-transfer ase as in previously described GSH-deficient cases. Hemolytic anemia w as their only manifestation, and neither 5-oxoprolinemia nor 5-oxoprol inuria. which are usually associated with the generalized type of glut athione synthetase deficiency, was noted in our patients. (C) 1996 by The American Society of Hematology.