长寿区孕期人群珠蛋白生成障碍性贫血血液学筛查及基因检测的研究

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。

Blood screening and gene detection of thalassemia in the pregnant couples in Changshou district

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 .