深圳龙岗区孕期地中海贫血防控实施效果分析

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[中图分类号]R173 [文献标识码]A [文章编号]1673—5293（2026）01—0093-06

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

RAN Jian，ZHU Xujie，PEI Yuanyuan，ZHUYanmei，ZENG Kangqiang，LIU Weiqiang （Longgang District Maternity and Child Healthcare Hospital of Shenzhen City/The Affiliated Longgang Maternityand Child HealthcareClinical Collegeof Shantou University，GuangdongShenzhen 518172，China）

[Abstract]ObjectiveToinvestigatedistributionof thalasemia genes among pregnant couples inLonggang district，Shenzencity， andhematologicalcharacteristicsofmaleandfemalecariers withthesametypeof thalassemia.Methods39799pairsofcouples with positive screning results who participatedin Longgang DistrictThalassemia Prevention Program from March 2019to Februaryo24wereselectedforcohortstudy，andthethalasemiascreeningdataanddiagnosticconfirmationsaswellasprenatal diagnosisoutcomes wereretrospectivelyanalyzed.ResultsIn39799pairsofpregnantcoupleswithpositiveroutinebloodsreening results in Longgang District，the carrying rates of α -thalassemia gene and β⋅ -thalassemia gene were 5.28% and 2.20% respectively. Of39799 pairsofouples，5Opirsofouplescariedsametypeof thalassemiagenesandrequiredprenataldagnosisduetoriskof deliveringnewbornswithmoderate-to-severethalassemia，andfinallyl95fetuseswerediagnosedasmoderate-tosevere thalassemia. Conclusion The carrying rates of α -thalassemia gene and β -thalassemia gene among pregnant couples in Longgang District，Shenzhen cityare lowerthan those in Guangdong province.Thecurrent thalassemia preventionand control strategies effectively prevent birth of neonates with severe thalassemia.

[Key words] pregnancy; α -thalassemia; β -thalassemia;screening;prenatal diagnosis

地中海贫血（简称地贫）是全世界范围内常见的单基因隐性遗传病[1]，夫妇携带同型地贫基因时，有四分之一的机会生育中重型地贫儿。（剩余9172字）