葡萄糖-6-磷酸脱氢酶缺乏症是由于X连锁的G6PD基因的突变所引起的。它是世界上最常见的酶缺乏症之一,也是最常见的遗传病之一。[2]Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74.http://www.ncbi.nlm.nih.gov/pubmed/18177777?tool=bestpractice.com[3]Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007;21:267-283.http://www.ncbi.nlm.nih.gov/pubmed/17611006?tool=bestpractice.com[4]Luzzatto L. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica. 2006;9:1303-1306.http://www.haematologica.org/cgi/reprint/91/10/1303http://www.ncbi.nlm.nih.gov/pubmed/17018377?tool=bestpractice.com[5]Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. 2008;111:16-24.http://www.bloodjournal.org/content/111/1/16.fullhttp://www.ncbi.nlm.nih.gov/pubmed/18156501?tool=bestpractice.com全球超过4亿人患病。最高的患病率是在具有非洲、地中海地区以及亚洲血统的人群中。库尔德犹太人的患病率为50%-70%。[6]Lim F, Vulliamy T, Abdalla SH. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol. 2005;58:317-319.http://www.ncbi.nlm.nih.gov/pubmed/15735168?tool=bestpractice.com在美国,黑人的患病率约为10%。[7]Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005;72:1277-1282.http://www.ncbi.nlm.nih.gov/pubmed/16225031?tool=bestpractice.com[6]Lim F, Vulliamy T, Abdalla SH. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol. 2005;58:317-319.http://www.ncbi.nlm.nih.gov/pubmed/15735168?tool=bestpractice.com正如所有的伴性遗传疾病一样,女性的患病率更高,但她们通常无症状。与许多其他的遗传性红细胞疾病(如血红蛋白病)的携带者的情况一样,G6PD缺乏症可以在一定程度上抵抗疟疾。这种预防作用主要限于杂合缺失的男性以及纯合缺失的女性,但也有报道,对于杂合缺失的女性也有作用。[8]Guindo A, Fairhurst RM, Doumbo OK, et al. X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria. PLoS Med. 2007;4:e66.http://www.plosmedicine.org/article/info%3Adoi%2F10.1371%2Fjournal.pmed.0040066http://www.ncbi.nlm.nih.gov/pubmed/17355169?tool=bestpractice.com[9]Ruwende C, Khoo SC, Snow RW, et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995;76:246-249.http://www.ncbi.nlm.nih.gov/pubmed/7617034?tool=bestpractice.com