丙酮酸激酶(PK)缺陷引起溶血(简称PK缺陷症)是红细胞糖酵解(Embden-Meyerhof)途径中最早发现最多见的一种酶异常疾病。过去称为“先天性非球形细胞性溶血性贫血”(CNHA)Ⅱ型,红细胞无特殊的异形,自体溶血试验呈Ⅱ型,溶血不被葡萄糖纠正而能被ATP纠正。60年代初Valentine等首先确定了CNHAⅡ型患者均存在PK缺陷,是一种常染色体隐性遗传性疾病。至1979年文献报道近300例以上。在酶缺陷引起的溶血 Pyruvate kinase (PK) deficiency causes hemolysis (referred to as PK deficiency) is the earliest found an abnormal enzyme disease in the Embden-Meyerhof pathway. Formerly known as “congenital non-spherical hemolytic anemia” (CNHA) type Ⅱ, red blood cells without special shaped, autolysed hemolysis was Ⅱ, hemolysis is not corrected by glucose and ATP can be corrected. In the early 1960s, Valentine et al. First identified PK deficiency in patients with CNHA Ⅱ type, which is an autosomal recessive disease. Until 1979, nearly 300 cases were reported in the literature. Hemolysis caused by enzyme defects