深圳龙岗区孕期地中海贫血防控实施效果分析

Implementation effect of prevention and control of thalassemia during pregnancy in Longgang district,Shenzhen city

摘要

目的 了解地中海贫血基因在深圳龙岗区怀孕夫妻中的分布情况及同类型地中海贫血男女性携带者的血液学表现。方法 以2019年3月至2024年2月在深圳龙岗区参加地中海贫血防控项目且筛查结果阳性的39 799对夫妻为研究对象,回顾性分析夫妻双方的地中海贫血筛查、诊断结果并追踪至产前诊断结果。结果 在血常规筛查呈阳性的夫妻中,α-地中海贫血基因携带者的检出率为5.28%,β-地中海贫血基因携带者的检出率为2.20%。39 799对夫妻中携带同型地贫基因并有生育中重型地贫儿风险需接受产前诊断的夫妻850对,确诊中重型地贫胎儿195个。结论 深圳市龙岗区怀孕夫妇中α和β地中海贫血基因携带率低于广东省地贫携带率,目前实施的地贫防控策略能有效阻断重型地贫儿出生。

Abstract

Objective To investigate distribution of thalassemia genes among pregnant couples in Longgang district,Shenzhen city,and hematological characteristics of male and female carriers with the same type of thalassemia. Methods 39 799 pairs of couples with positive screening results who participated in Longgang District Thalassemia Prevention Program from March 2019 to February 2024 were selected for cohort study,and the thalassemia screening data and diagnostic confirmations as well as prenatal diagnosis outcomes were retrospectively analyzed. Results In 39 799 pairs of pregnant couples with positive routine blood screening results in Longgang District,the carrying rates of α-thalassemia gene and β-thalassemia gene were 5.28% and 2.20% respectively. Of 39 799 pairs of couples,850 pairs of couples carried same type of thalassemia genes and required prenatal diagnosis due to risk of delivering newborns with moderate-to-severe thalassemia,and finally 195 fetuses were diagnosed as moderate-to-severe thalassemia. Conclusion The carrying rates of α-thalassemia gene and β-thalassemia gene among pregnant couples in Longgang District,Shenzhen city are lower than those in Guangdong province.The current thalassemia prevention and control strategies effectively prevent birth of neonates with severe thalassemia.

关键词

孕期 / α-地中海贫血 / β-地中海贫血 / 筛查 / 产前诊断

Key words

pregnancy / α-thalassemia / β-thalassemia / screening / prenatal diagnosis

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基金资助

区级重点实验室认定扶持-龙岗区出生缺陷预防重点实验室(LGKCZSYS2018000010)