新生儿G6PD缺乏症筛查结果分析

Anaiysis of screening for neonate with G6PD deficiency

目的：通过对新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查，了解中山地区G6PD缺乏症的发病情况。方法：取出生48-72h后95471例新生儿足跟末梢血3滴于滤纸血片上，应用荧光斑点法对新生儿进行G6PD缺陷筛查，阳性病例用G6PD／6PGD比值法确诊。结果：中山地区G6PD缺乏症总发生率为4．20％（4009／95471），男婴2512例，占男性受检人数的5．10％（2512／49251），其中中度缺乏638例，占1．30％（638／49251），重度缺乏1874例，占3．80％（1874／49251）；女婴1497例．占女婴受检人数的3．24％（1497／46220），其中中度缺乏1300例，占2．81％（1300/46220），重度缺乏197例，占0．43％（197／46220）。结论：中山地区是G6PD缺乏症的高发区，男性患者明显多于女性患者，男性多为重度缺乏，女性多为中度缺乏。

Objective： To investigate the state of G6PD deficiency in Zhongshan by screening neonatal G6PD deficiency. Methods： The screening for neonatal G6PD was conducted among 95 471 newborns in Zhongshan, heel prick blood specimens were collected around 48 - 72 h after birth and specimens were dried on filter papers. G6PD was measured by Fluorescence spot test （FST）. G6PD/6PGD ratio test of the venous blood sample was further performed for confirmation. Results： The total incidence of neonate G6PD deficiency in Zhongshan was 4. 20% （4 009/95 471 ）. Among 49 251 male newborns checked, the incidence of male G6PD was 5. 10% （2 512/49 251） with 638 moderate deficiency infants （ 1.30%, 638/49 251 ） and 1 874 severe deficiency infants （3. 80%, 1 874/49 251 ） ; among 46 220 female newborns checked, the incidence of female G6PD was 3.24% （ 1 497/46 220） with 1 300 moderate deficiency infants （2. 81%, 1 300/46 220） and 197 severe deficiency infants （0. 43%, 197/46 220） . Conclusion： The data shows that Zhongshan city is high incidence area of neonate G6PD. Male G6PD is obviously more than female, the majority of male G6PD is severe deficiency and female G6PD is moderate deficiency.