Gondo H, Ideguchi H, Hayashi S, Shibuya T
Division of Internal Medicine, Sanshinkai Hara Hospital, Fukuoka, Japan.
Int J Hematol. 1992 Jun;55(3):215-8.
Severe acute hemoglobinemia and hemoglobinuria developed in a 17-year-old Japanese male with no history of exposure to any oxidizing agents. Examination of erythrocyte enzyme activity revealed that the patient's erythrocyte glutathione peroxidase (GSH-Px) activity was decreased to about a half that in control cells. Serum selenium (Se) concentration was within normal limits. Family studies showed that GSH-Px activity in the erythrocytes of two siblings was similarly decreased. It was suggested that the proband was suffering from a hereditary heterozygous GSH-Px deficiency, which appeared to be associated with acute hemolysis.
一名17岁的日本男性，无任何接触氧化剂的病史，却出现了严重的急性血红蛋白血症和血红蛋白尿。红细胞酶活性检查显示，该患者的红细胞谷胱甘肽过氧化物酶（GSH-Px）活性降至对照细胞的约一半。血清硒（Se）浓度在正常范围内。家族研究表明，两名兄弟姐妹的红细胞中GSH-Px活性同样降低。提示先证者患有遗传性杂合性GSH-Px缺乏症，这似乎与急性溶血有关。
