Valentine W N, Paglia D E
Br J Haematol. 1979 Jun;42(2):231-7. doi: 10.1111/j.1365-2141.1979.tb01128.x.
Hereditary haemolytic anaemia not associated with spherocytosis, ovalocytosis, stomatocytosis or haemoglobinopathy was observed in three members of a kindred. There were no demonstrable abnormalities of enzymes of the Embden-Myerhof pathway, the hexosemonophosphate shunt, or of a variety of non-glycolytic enzymatic activities assayed in patient erythrocytes. In each case, red cell glutathione was increased in concentration three to six standard deviations above our normal mean. Erythrocyte glutathione was normally stable and all sulfhydryl reacting material was shown by specific enzyme assays to represent either reduced (97%) or oxidized (3%) glutathione. No abnormality in active transport of oxidized glutathione was demonstrable in the red cells. This syndrome of unknown actiology was transmitted in autosomally dominant fashion or, alternatively, as a possibly x-chromosome linked disorder. Existing data did not permit the differentiation of these two possibilities.
在一个家族的三名成员中观察到了与球形红细胞症、椭圆形红细胞症、口形红细胞症或血红蛋白病无关的遗传性溶血性贫血。在患者红细胞中检测到的Embden-Myerhof途径、磷酸己糖旁路的酶或各种非糖酵解酶活性均无明显异常。在每种情况下，红细胞谷胱甘肽浓度均比我们的正常平均值高出三到六个标准差。红细胞谷胱甘肽通常是稳定的，通过特定的酶测定表明，所有巯基反应物质要么代表还原型（97%）谷胱甘肽，要么代表氧化型（3%）谷胱甘肽。红细胞中氧化型谷胱甘肽的主动转运未显示异常。这种病因不明的综合征以常染色体显性方式遗传，或者作为一种可能与X染色体连锁的疾病遗传。现有数据无法区分这两种可能性。
