重庆地区2951例地中海贫血基因检测结果分析  

Gene detection result analysis of 2951 cases of thalassemia

作　　者：何丽[1] 朱晓芳[1] 王薇[1] 赖雪梅[1] 彭茸[1] 朱欣[1] 吕虹洁[1] 张海燕[1] HE Li ZHU Xiao-fang WANG Wei LAI Xue-mei PENG Rong ZHU Xin LV Hong-jie ZHANG Hai-yan(Chongqing Women and Children Health Care Hospital, Dept. Health Care of Women, 400010)

机构地区：[1]重庆市妇幼保健院妇保科,400010

出　　处：《中国优生与遗传杂志》2017年第4期26-27,133,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过地中海贫血基因检测结果分析,了解重庆地区育龄人群地中海贫血基因类型及分布特征。方法对2015年3月~2016年5月在我院行不孕检查、产检、孕前检查及体检的且疑似地中海贫血的部分育龄人群进行地中海贫血基因检测。结果 2951例受检者中确诊为地中海贫血的1325例,检出率44.90%(1325/2951),α地中海贫血743例,占25.18%(743/2951),β地中海贫血556例,占18.84%(556/2951),αβ复合型地中海贫血26例,占0.9%(26/2951)。结论研究重庆地区的地中海贫血基因类型及构成比情况,为遗传咨询、生育指导提供了有价值的理论依据。Objective：understand the gene type and distributional characteristics of thalassemia among people of reproductive ages in Chongqing through analysis of thalassemia gene detection result. Method：carry out thalassemia gene detections among people of reproductive ages with suspected thalassemia detected from infertility diagnoses,pregnancy inspections,prepregnancy physical examinations and medical checks in our hospital from March 2015 to May 2016. Result：1,325 out of 2,951 inspected cases were diagnosed as thalassemia,the detection rate of which was 44.90%（1325/2951）. Among those diagnosed as thalassemia,743 cases were α-thalassemia,accounting for 25.18%（743/2951）,556 cases were β-thalassemia,accounting for 18.84%（556/2951）,and 26 cases were α and β compound thalassemia,accounting for 0.9%（26/2951）. Conclusion：researches on the gene type and proportion of thalassemia in Chongqing have provided valuable theoretical basis for genetic counselling and fertility guidance.

关 键 词：地中海贫血 基因分型 Α地中海贫血 Β地中海贫血 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]