蔡文英??杨菊娟??邹东霞

[摘要] 目的 通过对新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查，了解揭西县新生儿葡萄糖-6-磷酸脱氢酶缺乏症的发病情况，提高对此病的认识，避免诱发此病。方法 使用BS-200全自动生化分析仪对7531例新生儿脐血进行G6PD定量检测（速率法）。结果 筛查7531例，阳性420例，阳性率为5.6%。男性4357例，阳性294例，占男性受检人数的6.7%（294/4357）；女性3156例，阳性126例，占女性受检人数的3.9%（126/3156）。男性重度缺乏占74.8%，轻度缺乏占25.2%，女性重度缺乏占18.3%，轻度缺乏占81.7%。结论 揭西县新生儿G6PD缺乏症发生率为5.6%，男性患者明显多于女性患者，男性多为重度缺乏，女性多为轻度缺乏。为G6PD缺乏症的新生儿100%发放G6PD缺乏症健康处方，提高预防意识，避免诱发此病。

[关键词] G6PD缺乏症；新生儿疾病筛查；发生率

[中图分类号] R722.1 [文献标识码] B [文章编号] 2095-0616（2014）04-184-03

Analysis on the screening results of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood for 7531 newborns

CAI Wenying YANG Jujuan ZOU Dongxia

Women's and Children's Hospital in Jiexi County，Jiexi 515400，China

[Abstract] Objective To understand the morbidity of neonatal glucose-6-phosphate dehydrogenase（G6PD） deficiency in Jiexi county via the screening of G6PD deficiency among newborns， and to improve people's knowledge of the disease which can be prevented and avoided. Methods G6PD of the umbilical cord blood of 7531 newborns were quantitatively measured via BS-200 automatic biochemical analyzer. Results 420 of the 7531 screened newborns were positive， and the positive rate was 5.6%.294 of the 4357 male newborns were positive，accounting for 6.7% of the male total（294/4357）.126 of the 3156 female newborns were positive， accounting for 3.9% of the female total（126/3156）.Severe deficiency in male newborns accounted for 74.8% of the total，and mild deficiency 25.2%. Severe deficiency in female newborns accounted for 18.3% of the total， and mile deficiency 81.7%. Conclusion The incidence rate of G6PD deficiency in Jiexi county is 5.6%， in which male patients are significantly more than female ones.Male majority are severe deficiency while female majority are mild deficiency. Health prescriptions are distributed to 100% of newborns with G6PD deficiency. People's awareness of prevention should be raised so as to avoid the disease.

[Key words] G6PD deficiency；Neonatal disease screening；Incidence

葡萄糖-6-磷酸脫氢酶（G6PD）缺乏症是一种性连锁不完全显性红细胞酶缺陷病，该病分布遍及世界各地，估计全世界有2亿以上的人患有G6PD缺陷[1]，我国以广东、广西、云南、四川省为高发区，其中以广东为最常见，发病的临床表现由于变异类型或酶缺陷成度不同，分为蚕豆病、伯氨喹型药物性溶血性贫血、感染诱发溶血、先天性非球型细胞性溶血性贫血5种临床类型，新生儿期可致胆红素脑病，造成不可逆脑损伤，出现严重后遗症，甚至死亡。G6PD缺乏症是新生儿疾病筛查项目之一。杜传书等[2]报道广东省的发病率为3.1%～16.1%。其中江剑辉等[3]报道广州市G6PD缺乏症筛查阳性率为4.2%，毛维玉等[4]报道深圳市发生率为2.3%，邓婷等[5]报道云浮市发生率为7.19%。……