CAJ | 학술논문

目的：对长寿区孕期人群珠蛋白生成障碍性贫血血液进行筛查及基因检测，指导优生优育和提供产前诊断。方法选取2013年1月至2014年10月在长寿区妇幼保健院就诊的1760名孕妇作为研究对象进行血红蛋白（H b ）成分分析，对珠蛋白生成障碍性贫血进行初级筛选；对初筛结果阳性、血常规异常的孕妇和其配偶进行珠蛋白生成障碍性贫血基因检测，确定基因型。结果对1760名孕妇进行 H b成分分析，其中怀疑为α‐珠蛋白生成障碍性贫血者27例，阳性率为1．53％，怀疑为β‐珠蛋白生成障碍性贫血者25例，阳性率为1．42％；对465名受检者进行珠蛋白生成障碍性贫血基因检测，其中女性438名中，珠蛋白生成障碍性贫血基因携带者阳性率为31．51％；男性27名中，珠蛋白生成障碍性贫血基因携带者阳性率为33．33％。结论孕期常规行珠蛋白生成障碍性贫血的筛查，对发病率高的地区的生育指导具有重要意义，为进一步进行基因诊断和遗传咨询提供基础。
목적：대장수구잉기인군주단백생성장애성빈혈혈액진행사사급기인검측，지도우생우육화제공산전진단。방법선취2013년1월지2014년10월재장수구부유보건원취진적1760명잉부작위연구대상진행혈홍단백（H b ）성분분석，대주단백생성장애성빈혈진행초급사선；대초사결과양성、혈상규이상적잉부화기배우진행주단백생성장애성빈혈기인검측，학정기인형。결과대1760명잉부진행 H b성분분석，기중부의위α‐주단백생성장애성빈혈자27례，양성솔위1．53％，부의위β‐주단백생성장애성빈혈자25례，양성솔위1．42％；대465명수검자진행주단백생성장애성빈혈기인검측，기중녀성438명중，주단백생성장애성빈혈기인휴대자양성솔위31．51％；남성27명중，주단백생성장애성빈혈기인휴대자양성솔위33．33％。결론잉기상규행주단백생성장애성빈혈적사사，대발병솔고적지구적생육지도구유중요의의，위진일보진행기인진단화유전자순제공기출。
Objective To establish blood screening and genetic detection of thalassemia trait in pregnant couples in Chang‐shou area so as to provide guidance for aristogenesis and prenatal diagnosis .Methods A total of 1 760 pregnancy in maternal and child health hospital treated from January 2013 to October 2014 were selected for study .The component of hemoglobin was ana‐lyzed as primary screening and genotype of pregnant couples were ensured in which primary screening result is positive .Results There were 27 cases suspected as α‐thalassemia (positive rate was 1 .53% ) and 25 cases suspected as β‐thalassemia(positive rate was 1 .42% ) in the primary screening(n=1 760) .The positive rate of gene carrier were 31 .51% (n=438) in women and 33 .33%(n=27) in men .Conclusion The routine screening of thalassemia could guide aristogenesis in high incidence area and provide terms of prenatal diagnosis and genetic counseling .