North M L, Kahn A, Messer K J, Willard D, Boivin P
Nouv Rev Fr Hematol. 1975 Jul-Aug;15(4):454-9.
A G-6-PD deficiency has been found in a Turkish male premature with neo-natal hyperbilirubinemia. His parents have no hemolytic antecedents. The propositus has a severe enzym deficiency in erythrocytes, a very decreased activity in leukocytes and platelets. His mother was heterozygous for this variant and his father had no abnormality. The deficient enzym was a new variant: G-6-PD Ankara. The main characteristics of this variant were the following: 1 degree severe enzym deficiency in erythrocytes (8% of normal); 2 degrees fast starch gel electrophoretic mobility (110% of normal); 3 degrees enzym instability in vivo and in vitro; 4 degrees increased KiNADPH; 5 degrees decreased molecular specific activity (58% of normal). Only variant B(-) G-6-PD deficiency have hitherto been described in Turkey. In contrast, G-6-PD Ankara is a fast variant and is unlike any other known variants.
在一名患有新生儿高胆红素血症的土耳其早产男性中发现了葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症。他的父母没有溶血病史。先证者红细胞中存在严重的酶缺乏，白细胞和血小板中的活性极低。他的母亲是这种变异的杂合子，而他的父亲没有异常。缺陷酶是一种新的变异型：G-6-PD安卡拉型。该变异型的主要特征如下：1. 红细胞中酶严重缺乏（为正常的8%）；2. 淀粉凝胶电泳迁移速度快（为正常的110%）；3. 体内和体外酶稳定性差；4. 辅酶II磷酸氢钾（KiNADPH）增加；5. 分子比活性降低（为正常的58%）。迄今为止，土耳其仅报道过B（-）型G-6-PD缺乏症。相比之下，G-6-PD安卡拉型是一种快速变异型，与其他任何已知变异型都不同。
