Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
Blood. 1996 Mar 1;87(5):2071-4.
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.
三名患慢性非球形红细胞溶血性贫血的互不相关的日本患者被发现红细胞（RBC）中还原型谷胱甘肽（GSH）显著缺乏（分别为正常水平的4.4%、13.1%和6.9%）。一组红细胞酶检测显示，一名患者的谷胱甘肽合成酶活性降低，另外两名患者的γ-谷氨酰半胱氨酸合成酶中度缺乏。每位患者的一些家庭成员表现出相应酶的轻度缺乏。这些患者的红细胞中谷胱甘肽-S-转移酶水平也如先前描述的谷胱甘肽缺乏病例一样降低。溶血性贫血是他们唯一的表现，我们的患者中未发现通常与全身性谷胱甘肽合成酶缺乏相关的5-氧脯氨酸血症或5-氧脯氨酸尿症。
