云南省德宏州不同民族孕龄人群地中海贫血的基因检测结果分析

Thalassemia genes testing among reproductive age population of different nationalities in Dehong prefecture of Yunnan province

目的分析云南省德宏州不同民族育龄人群地中海贫血的基因类型特点,为该地区地中海贫血预防和诊断提供科学依据,以更好地实施地中海贫血防控,减少中重度地贫患儿出生。方法选择2017年1月-2018年12月在德宏州妇幼保健计划生育服务中心进行孕前咨询的孕龄夫妇和接受产前筛查的孕妇共1 181例,利用跨越断裂点PCR法(GAP-PCR)及PCR结合反向斑点杂交法(RDB-PCR),对地贫筛查阳性的孕龄夫妇进行α、β地中海贫血基因检测。根据地中海贫血筛查结果分为非地贫组和地贫基因携带组,并比较两组之间平均红细胞体积(MCV)、平均血红蛋白含量(MCH)及血红蛋白浓度(HGB)。结果共检出地中海贫血861例,傣族、景颇族和汉族的阳性检出率分别为69.96%、69.03%和30.77%。其中检出α-地中海贫血468例,β-地中海贫血393例,α复合β-地中海贫血163例,构成比分别为39.63%、33.28%、13.80%;α-地中海贫血中,-α3.7/αα缺失型突变基因频率为72.34%,其次为--SEA/αα缺失型占13.37%;β-地中海贫血则主要以CD 26突变型为主,基因频率为86.99%。地贫基因携带组MCV、MCH和HGB均明显低于非地贫组(P<0.001)。结论德宏州属于地中海贫血高发区,地中海贫血基因携带率高,傣族、景颇族明显高于汉族。调查该地区孕龄人群地中海贫血的基因携带情况为遗传咨询和产前诊断,降低中重型地中海贫血发病率提供数据。

Objective To investigate and analyze the frequency and spectrum of thalassemia among reproductive age population of different nationalities in Dehong prefecture in Yunnan province,so as to provide better implementation of the prenatal thalassemia screening and reduce birth defects.Methods A total of 1 181 cases of childbearing age couples and pregnant female in Dehong prefecture from January 2017 to December 2018 were detected for the thalassemia gene for prenatal screening with GAP-PCR method and RDB-PCR method.According to the results of thalassemia gene screening,cases were divided into non-thalassemia group and thalassemia gene carrying group and their mean red blood cell volume(MCV),mean hemoglobin(MCH)and hemoglobin concentration(HGB)were detected and compared between two groups.Results There were 861 cases carrying thalassemia gene accounted for 72.90%(861/1 181),and the positive rates of thalassemia among Dai,Jingpo and Han people were 69.96%,69.03%and 30.77%,respectively;among them,468 cases ofα-thalassemia gene carriers,393 cases ofβ-thalassemia,163 cases ofα-compoundβ-thalassemia,accounted for39.63%,33.28%and 13.80%,respectively.The most common type ofα-thalassemia was-α3.7/αα72.34%,followed by--SEA/αα13.37%;the most common type ofβ-thalassemia was CD 26 accounted for 86.99%.Compared with non-thalassemia group,MCV,MCH,HGB of thalassemia gene carrying group were significantly decreased(P<0.001).Conclusion Dehong prefecture is a multi-ethnic region with a high thalassemia carrier frequency.It is necessary to investigate the frequency and spectrum of thalassemia gene mutation and the characteristics of the red blood cell parameters in order to provide accurate genetic counseling and prenatal diagnosis and avoid birth of children with severe thalassemia.