论文部分内容阅读
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(mean corpuscular volume,MCV)、平均红细胞血红蛋白(mean corpuscular hemoglobin,MCH)、红细胞平均血红蛋白浓度(mean corpuscular hemoglobin concentration,MCHC)等数据,阳性患者进行α、β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14 334人,地贫筛查阳性1 662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)fl、(19.16±4.70)pg、(258.08±21.02)g/L;女性746例,MCV、MCH、MCHC均值分别为(69.79±4.33)fl、(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1 163例,其中按基因型分类α地贫674例(57.95%),β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、β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 To screen for thalassemia (referred to as thalassemia) in married couples of reproductive age in Dongyuan County of Guangdong Province by using the national prenatal checkup technology for eugenics, to understand the incidence and genotype distribution of the disease, and to provide epidemiology for prevention and control of thalassemia in accordance with. Methods Free thalassemia screening was conducted in married couples of reproductive age in our county from 2011 to 2013, and the corresponding mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean hemoglobin concentration of erythrocytes mean corpuscular hemoglobin concentration, MCHC) and other data, positive patients with α, β thalassemia gene diagnosis, positive gene diagnosis of genetic counseling and fertility guidance. Results A total of 14 334 married couples of childbearing age were screened, and 1 662 were positive for thalassemia screening. The incidence rate was 11.59%. Among them, 916 males had mean MCV, MCH and MCHC of (69.19 ± 6.44) 4.70) pg, (258.08 ± 21.02) g / L, respectively. There were 746 women with MCV, MCH and MCHC (69.79 ± 4.33) pg, There was no significant difference in the incidence of thalassemia among women (P> 0.05). There were 1 163 cases of thalassemia gene diagnosis, including 674 (57.95%) cases of α-thalassemia and 378 cases of β-thalassemia (32.50%) by genotype. Conclusion The incidence of thalassemia of married couples of childbearing age in Dongyuan County of Guangdong Province is relatively high. The distribution of α, β thalassemia gene is in line with the basic characteristics of Guangdong Province. Screening and genetic diagnosis of thalassemia among the reproductive-age population provides an important reference for prevention and control of thalassemia, and is of great significance to improving the quality of the born population.