柳州市新生儿筛查检出红细胞G6PD缺陷217例分析

Analysis of 217 cases screened neonatal with G6PD deficiency in Liuzhou

本文通过对柳州市新生儿筛查检出红细胞Ｇ６ＰＤ缺陷２１７例分析，发现Ｇ６ＦＤ缺陷儿血红蛋白、红细胞总数均有不同程度下降，与正常对照组有非常显著性差异（Ｐ＜０．０１）；新生儿黄疸的发生率为４１．４％，黄疸以轻度为主。家系调查证实广西籍为高发人群，患儿母亲Ｇ６ＰＤ缺乏捡出率约７０％，提示女性杂合子存在漏诊，为进一步提高检出率，应对孕产妇进行Ｇ６ＰＤ缺乏症的筛查。

cases sereened neonatal with D6PD deficiency is analyzed,and hemoglobin and total numer of red blood cell decrease significantly as compared with normal control(p<0.01).Incidence of jaundice is 41.4%.Mild jaundice is predominant type.Genealogy analysis showed that people with Guangxi Province orgin is high risk population and the detectable rate of patienls'mother is 70%.The conclusion is that female heterozygotes may be missed diagnosed.In order to raise the detectable rate,it's necessary to screen the couple for D6PD deficiency.