A. Hirono et al., 3 CASES OF HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA ASSOCIATED WITHRED-BLOOD-CELL GLUTATHIONE DEFICIENCY, Blood, 87(5), 1996, pp. 2071-2074
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.