Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency

Author:

Hirono A1,Iyori H1,Sekine I1,Ueyama J1,Chiba H1,Kanno H1,Fujii H1,Miwa S1

Affiliation:

1. Okinaka Memorial Institute for Medical Research, Tokyo, Japan.

Abstract

Abstract 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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