title: Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
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.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: H
authors.initials: H
authors.lastname: Iyori
authors.forename: I
authors.initials: I
authors.lastname: Sekine
authors.forename: J
authors.initials: J
authors.lastname: Ueyama
authors.forename: H
authors.initials: H
authors.lastname: Chiba
authors.forename: H
authors.initials: H
authors.lastname: Kanno
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood* / Q000201:enzymology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005721:Glutamate-Cysteine Ligase / Q000172:deficiency* / Q000235:genetics; D005978:Glutathione / Q000097:blood / Q000187:drug effects*; D005979:Glutathione Peroxidase / Q000097:blood; D005980:Glutathione Reductase / Q000097:blood; D005981:Glutathione Synthase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D010084:Oxidation-Reduction; D011761:Pyrrolidonecarboxylic Acid / Q000097:blood / Q000652:urine
chemical_list: D005979:Glutathione Peroxidase; D005980:Glutathione Reductase; D005721:Glutamate-Cysteine Ligase; D005981:Glutathione Synthase; D005978:Glutathione; D011761:Pyrrolidonecarboxylic Acid