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Three cases of hereditary nonspherocytic hemolytic anemia associated with
red blood cell glutathione deficiency
A Hirono, H Iyori, I Sekine, J Ueyama, H Chiba, H Kanno, H Fujii and S Miwa
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
Three unrelated Japanese patients with chronic nonspherocytic hemolytic
anemia wer found to have marked deficiency of red blood cell (RBC) reduced
glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel
of RBC enzyme assays showed that one patient had decreased glutathione
synthetase activity and the other two were moderately deficient in
gamma-glutamylcystine synthetase. Some family members of each patient
showed mild deficiency of the respective enzymes. RBCs of these patients
also showed a decreased level of glutathione-S-transferase as in previously
described GSH-deficient cases. Hemolytic anemia was their only
manifestation, and neither 5- oxoprolinemia nor 5-oxoprolinuria, which are
usually associated with to generalized type of glutathione synthetase
deficiency, was noted in our patients.
Volume 87,
Issue 5,
pp. 2071-2074,
03/01/1996
Copyright © 1996 by The American Society of Hematology
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