广东省东源县已婚育龄夫妇地中海贫血发病率及基因型分布现况分析

The analysis on morbidity and genotypes distribution of thalassemia in married couples of child-bearing age in Dongyuan county of Guangdong province

目的利用国家孕前优生检查技术平台，对广东省东源县已婚育龄夫妇进行地中海贫血（简称地贫）筛查，了解其发病率及基因型分布情况，为地贫的防控提供流行病学依据。方法对2011～2013年我县已婚育龄夫妇开展免费地贫筛查工作，获得相应的平均红细胞容积（meancorpuscularvolume，MCV）、平均红细胞血红蛋白（meancorpuscularhemoglobin，MCH）、红细胞平均血红蛋白浓度（meancorpuscularhemoglobinconcentration，MCHC）等数据，阳性患者进行d、B地贫基因诊断，对基因诊断阳性者进行遗传咨询和生育指导。结果共筛查已婚育龄夫妇14334人，地贫筛查阳性1662例，发病率为11．59％，其中男性916例，MCV、MCH、MCHC均值分别为（69．19±6．44）n、（19．16±4．70）Pg、（258．08±21．02）/L；女性746例，MCV、MCH、MCHC均值分别为（69．79±4．33）n、（19．73±4．27）Pg、（255．46±34．62）g／L；男、女性地贫发病率比较差异无统计学意义（P〉0．05）。地贫基因诊断阳性1163例，其中按基因型分类仅地贫674例（57．95％），B地贫378例（32．50％）。结论广东省东源县已婚育龄夫妇地贫发病率较高，其α、B地贫基因型分布的特点符合广东省的基本特点。对育龄人群进行地贫的筛查和基因诊断，为地贫的防控提供重要的参考依据，对提高出生人口素质具有重要意义。

Objective Screening thalassemia in married couples of child - bearing age in Dongyuan county of Guangdong province through the national pre - pregnancy eugenics inspection technology platform. To analyze the situation of morbidity and genotypes distribution of thalasscmia in married couples of child - bearing age, to provide references for prevention of thalassemia. Methods The thalassemia screening were conducted in married couples of child -bearing age during the 2011 to 2013 in Dongyuan county. Data of mean corpuscular volume （MCV） , mean corpuscular hemoglobin （MCH） , mean corpuscular hemoglobin concentration （ MCHC ）, et al were collected. The positive patients were identified for the genotype of thalassemia. Patients with positive gene mutations were given genetic counseling and reproductive guidance. Results 14 334 cases were conducted the screening, of which 1 662 cases were considered as thalassemia in the preliminary screening with the morbidity of 11.59% , 916 male patients with MCHC of （258.08 ＋ 21.02）g/L, MCV of （69. 19 _＋ 6.44）t3, MCH of（19. 16 ＋ 4.70）pg and 746 female patients with MCHC of（255.46 ＋- 34.62）g/L, MCV of（69.79 -＋ 4.33）fl, MCH of（19.73 _＋ 4.27）pg, no significant difference in morbidity of thalassemia were found between the two groups （ P 〉 0.05 ）. 1 163cases were confirmed by gene diagnosis, of which 674 cases（57.95% ） got the alpha thalassemia and 378 cases（32. 50% ） got the thalassemia. Conclusion Morbidity of thalassemia is quite high in Dongyuan county of Guangdong province, and the characteristics of athalassemin genothpe and β - thalassemia genotype were consistent with that in Guangdong province. It is important for improving quality of newborn population though thalassemia screening and genetic diagnosis in child - bearing age population.