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目的分析福州市葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况,为新生儿筛查和疾病防治提供依据。方法选择2006年1月至2013年12月在我院新生儿筛查中心接受筛查的新生儿,采集新生儿足跟末梢血,对新生儿进行G6PD缺乏症筛查,初筛可疑阳性病例召回后取静脉血用硝基四氮唑蓝G6PD/6PGD比值法(NBT定量比值法)行确诊试验。结果研究期间福州市进行G6PD筛查的新生儿共105 156名,男57 785名,女47 371名,初筛可疑阳性1 708例,确诊1 437例,G6PD总发生率1.37%。男婴G6PD缺乏1 152例,发生率1.99%,其中中度缺乏158例,发生率0.27%,重度缺乏994例,发生率1.72%;女婴G6PD缺乏285例,发生率0.60%,其中中度缺乏194例,发生率0.41%,重度缺乏91例,发生率0.19%。结论福州市有一定的G6PD缺乏症发生率,但是较两广、海南等地区低。大力推动新生儿G6PD缺乏症筛查的开展,有利于新生儿高胆红素血症及婴幼儿溶血性贫血的早期防治。
Objective To analyze the incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fuzhou and provide basis for neonatal screening and disease prevention. Methods From January 2006 to December 2013 in our hospital neonatal screening center for screening of newborns, collecting newborn heel peripheral blood, neonatal G6PD deficiency screening, screening of suspected positive cases of recall After taking venous blood with nitro-tetrazolium blue G6PD / 6PGD ratio method (NBT quantitative ratio method) line diagnosis test. Results During the study period, 105 156 newborns in G6PD screening in Fuzhou City were recruited, 57 785 males and 47 371 females. A total of 1 708 suspicious positives were screened and 1 437 were diagnosed. The overall incidence of G6PD was 1.37%. The lack of G6PD in boys was 1 152 cases, with a incidence of 1.99%. Among them, 158 cases were moderately deficient, the incidence was 0.27%, 994 cases were severe and the incidence was 1.72%. There were 285 cases of G6PD deficiency in infants, the incidence was 0.60% Lack of 194 cases, the incidence of 0.41%, severe lack of 91 cases, the incidence of 0.19%. Conclusion Fuzhou has a certain incidence of G6PD deficiency, but lower than those of Guangdong and Guangxi and Hainan. Vigorously promote neonatal G6PD deficiency screening carried out in favor of neonatal hyperbilirubinemia and infant early prevention and treatment of hemolytic anemia.