新生儿脐血筛查葡萄糖6-磷酸脱氢酶缺乏的研究

目的:建立适合葡萄糖6-磷酸脱氢酶(G6PD)缺乏新生儿筛查的检测方法。方法:用高铁血红蛋白还原试验检测新生儿济血G6PD,对阳性者进行复查,抽取静脉血测定G6PD/6PGD比值,进行确诊。结果:用高铁血红蛋白还原试验检测1397例,其筛查阳性率7.09％,确诊检出率5.73％。与G6PD/6PGD比值法的符合率为81％,重度G6PD缺陷者符合率为94.2％。结论:高铁血红蛋白还原试验准确性较高,敏感性强、简便、快速、费用低廉,适合在高发地区开展G6PD缺乏的新生儿筛查应用,有利于G6PD缺乏患儿的早期诊断和防治工作中应用。

Study of Newborn Umbilical Blood Screening of G6PD Deficiency

Objective To establish the methods for neonatal screening of glucose-6 phosphate dehydrogenase (G6PD) deficiency. Methods G6PD activity was measured by using the redemption of high-ferrum haemoglubin with the umbilical blood of the newborn baby for neonatal screening. G6DP/6PGD rate test of venous blood samples was further performed for confirmation. Results The positive G6PD deficiency rate was 7. 09 % and its detection rate was 5. 73 % in the redemption of high-ferrum haemoglobin for screening 1 397 cases. The confirmation rate of it with G6PD/6PGD rate test for G6PD deficinecy was 81. 0 % , and 94. 2 % particularly in severe deficiency groups. Both sensitivituy and specificity were very high in severe deficiency groups. Conclusion The redemption of high-ferrum haemoglobin is used in neonatal screening of G6PD deficiency because of its high accuracy, applicability, and simplicity. It is very favorable to diagnose and treat G6PD deficiency early in high incidence districts.