カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
掲載誌名	正式名：Blood 略　 称：Blood ISSNコード：0006-4971(Print)0006-4971(Linking)
巻・号・頁	87(5),pp.2071-4
著者・共著者	Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
発行年月	1996/03
概要	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.
文献番号	8634459