不孕不育妇女地中海贫血检测分析  

Prevalence of thalassemia among infertile women in Hainan province

作　　者：符免艾 黄勇 李娟 邱逸敏 冼梅兰 张云霞[1] 

机构地区：[1]海南医学院理学院,海南海口571100 [2]海南省农垦总医院生殖科 [3]海南医学院

出　　处：《中国公共卫生》2015年第6期835-836,共2页Chinese Journal of Public Health

基　　金：海南省卫生厅科研项目(琼卫2013自筹-20)

摘　　要：目的探讨海南省不孕不育妇女地中海贫血的发生率并分析其突变类型。方法利用gap PCR及杂交检测试剂盒对334例不孕不育妇女患者进行地贫突变类型的检测。结果 334例不孕不育女性中地中海贫血的总检出率为15.9%,其中β地贫突变共检出3种类型,共5例,检出率为1.5%,包括β17M/βA及β41-42M/βA各1例,βEM/βA共3例;α地贫检出7种突变类型,共47例,检出率为14.1%,包括-α3.7/-α3.7共5例,-α3.7/αα19例,-α4.2/-α4.2共1例,-α4.2/αα14例,-α3.7/αα&-α4.2/αα双突变4例,-SEA/-SEA共1例,-SEA/αα共3例;检出1例患者属于α复合β型,检出率为0.3%。结论不孕不育妇女患者地贫基因携带率较高,需严格执行并加强对孕前地贫筛查工作,以利于优生优育,提高人口素质。Objeαive To deteα prevalence and genotype of thalassemia among infertile women in Hainan prov- ince. Methods A total of 334 infertile women were recruited and deteαed for et thalassemia with gap PCR and hybridi- zation kit. Results Among the women,the overall prevalence of thalassemia was 15.9% ;the prevalence of α thalasse- mia（47 cases） was 14. 1%, with 5 cases of - α3.7/- α3.7,19 of - α3.7/αα, 1 of - α4. 2/- α4. 2,14 of - α4. 2/ αα,4 of - α3.7/etα and - α4. 2/ααdouble mutation, 1 of - SEA/- SEA, and 3 of - SEA/αα; the prevalence of 13 thalassemia was 1.5 % ,including 1 of t317M/13A, 1 of 1341 - 42M/13A, and 3 of 13EM/13A; additionally, 1 case of com- bined et and 13 thalassemia was deteαed, with the prevalence of 0. 3 %. Conclusion The thalassemia positive rate is high among infertile women in Hainan province and the screening of thalassemia is strongly recommended among the women.

关 键 词：不孕 地中海贫血 基因诊断 

分 类 号：R211.6[医药卫生—中医学]