Vigneron C
Centre Régional de Transfusion Sanguine, Vandoeuvre-les-Nancy.
Ann Biol Clin (Paris). 1988;46(1):52-8.
G-6-PD deficiency is predominant in the entire history of haemolytic anemias secondary to enzyme deficiency, since its represents, by far, the most frequent erythro-enzymopathy; it is also the most studied and the best known from the clinical as well as biological standpoints. Because of the ethnic groups particularly affected, this deficiency is essentially, in France, an imported pathology, even if there are a few true european cases. The biological diagnosis of the deficient patient is simple and well codified, but the interpretation of numerous variants of the enzyme remains quite complex. The recent cloning of the gene should provide a decisive progress in understanding these various deficiencies.
葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症在继发于酶缺乏的溶血性贫血的整个历史中占主导地位,因为它是迄今为止最常见的红细胞酶病;从临床和生物学角度来看,它也是研究最多、最知名的。由于特定受影响的种族群体,在法国,这种缺乏症本质上是一种输入性疾病,即使有一些真正的欧洲病例。对缺乏症患者的生物学诊断简单且有明确规范,但对该酶众多变体的解释仍然相当复杂。该基因最近的克隆在理解这些各种缺乏症方面应会带来决定性进展。