Department of Neonatal & Developmental Medicine, Singapore General Hospital, Outram Road,Singapore 169608.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):81-3.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may be fast, slow or normal. Over 160 mutations have been described, mostly due to single amino acid substitution. Although correlation of the genotype and biochemistry with the clinical phenotype of G6PD deficient individuals remains somewhat variable, there is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种常见的遗传性酶缺陷，存在于许多来自非洲、中东、地中海和亚洲国家的人群中。酶缺陷的个体可能无症状，也可能因感染或吃了蚕豆、新生儿黄疸或慢性非球形细胞溶血性贫血而发生急性溶血性危象。电泳迁移率可能很快、很慢或正常。已经描述了超过 160 种突变，主要是由于单个氨基酸取代。尽管 G6PD 缺乏个体的基因型和生物化学与临床表型之间的相关性仍然有些不同，但在表现为慢性非球形细胞溶血性贫血的个体中相关性更好，这与酶的 NADP 结构有关。
