高铁血红蛋白还原法和紫外法联合检测新生儿红细胞G6PD缺陷症

目的探讨广州地区红细胞G6PD缺陷症的发生率及提高早期准确诊断新生儿G6PD缺陷症的诊断率。方法应用MHB-RT和G6PD／6PGD紫外直接比值法同时对10年来在我院出生的新生儿脐血进行G6PD检测。结果G6PD缺陷者总检出率6．76％（775／11462），与本地区报道的发生率5．39％比较，有显著提高。其中男性发生率5．18％（（300／5795）），女性发生率8．38％（475／5667）。MHB-RT法和G6PD／6PGD紫外比值法对男性G6PD缺陷者100％检出；在女性杂合子检测中，G6PD／6PGD紫外比值法有6．15％（29／471）的假阴性；若单纯检测G6PD酶活性，有35．88％为假阴性。MHB-RT法有6．46％（691／10687）的假阳性。结论应用MHB-RT法与紫外比值法联合检测女性杂合子检出率比本地区发生率6．13％有显著提高。两法联合检测能更客观更准确诊断G6PD缺陷症，尤其对女性新生儿早期诊断，可减少漏诊和误诊，可减少因G6PD缺陷而造成的新生儿黄疸，核黄疸甚至死亡，有着重要的临床意义，对于基层医院也有实用意义。

Combined application of methemoglobin reduction test and RBC G6PD/6PGD ultraviolet ratio assay in the diagnosis of newborn G6PD deficiency

Objective To investigate the incidence of G6PD deficiency in Guangzhou region and to improve the accuracy of the diagnosis of newborn G6PD deficiency. Methods Newborn cord blood samples were collected during last ten years in our hospital. Methemoglobin reduction test and G6PD/ 6PGD ultraviolet ratio assay were simultaneously used to identify the G6PD deficiency in these newborns' cord blood samples. Results 11 462 newborns' cord blood samples were analyzed and a total of 775 G6PD-deficient newborns were diagnosed. The overall incidence of G6PD deficiency was 6.76 %, higher than the reported 5.39 % incidence in this region. Among 5 795 male newborns, 300 were diagnosed as G6PD deficiency, with an incidence rate of 5.18 %; among 5 667 female newborns, 475 were diagnosed as G6PD dificiency, with an incidence of 8.38 %. Conclusions The combined application of the two methods in the detection of G6PD deficiency showed that the incidence of male G6PD dificiency was higher than previously reported incidence, and the incidence of female heterozygote was significantly higher than 6.13%.