自从1956年Carson等人发现G6PD缺乏症以来,己报道了20多种不同的遗传性酶病,其中大多数是导致溶血性贫血。人们早己认识到应根据红细胞的代谢特征进行红细胞酶病的临床诊断。近来对酶病的分子机理有了进一步了解,并针对某种酶(如G6PD、PK等)制备出专一性DNA探针,为在基因水平上进行诊断提供了可能。红细胞是一种简化的细胞,内有三条主要代谢途径,其中任何一条途径都可因特异 Since Carson et al. Discovered G6PD deficiency in 1956, more than 20 different genetic enzyme diseases have been reported, the majority of which lead to hemolytic anemia. It has long been recognized that the clinical diagnosis of erythrocytic enzymes should be based on the metabolic characteristics of red blood cells. Recently, the molecular mechanism of enzyme disease has been further understood, and a specific enzyme (such as G6PD, PK, etc.) to prepare a specific DNA probes for gene diagnosis at the genetic level provided the possibility. Erythrocytes are a simplified cell that has three major metabolic pathways within which either pathway can be specific