深圳地区未婚青年人群地中海贫血基因携带率现状调查

Investigation the present situation of the Mediterranean anemia genes carry rate of Unmarried young men in shenzhen area

目的了解深圳地区未婚青年人群地中海贫血携带率现状及常见突变基因类型和突变发生率,为合理健康婚配提供科学依据。方法随机选取2014年3月-2015年10月来医院体检的未婚青年人群共6182例,均采用Sysmex XN-9000全自动血细胞分析仪和红细胞渗透脆性试验进行地中海贫血初筛检查,对平均红细胞体积（MCV）≤82 fl和平均红细胞含量（MCH）≤27pg或红细胞渗透脆性率〈60%的人群进行血红蛋白电泳分析做进一步筛查,对初筛阳性者采用PCR和反向点杂交法进行地中海贫血基因检测确认,并对检测结果进行统计分析。结果 6182例未婚青年人群中地中海贫血初筛总阳性率17.3%（1069/6182）,其中可疑α-地贫为12.2%（752/6182）,可疑β-地贫为5.1%（317/6182）;基因诊断确认地中海贫血总阳性率为11.6%（717/6182）,其中α-地贫为6.7%（413/6182）,β-地贫杂合子为3.4%（209/6182）,α＋β地贫为1.5%（95/6182）;α-地中海贫血基因缺陷类型主要为--^SEA/αα、-α^3.7/αα及-α^4.2/αα,缺陷率分别为60.8%、23.5%及10.4;β-地中海贫血基因缺陷类型主要为CD41/42、CD17及-28,缺陷率分别为41.1%、28.2%及12.9%。结论深圳地区未婚青年人群中地中海贫血有一定的携带率,当地计划生育部门应引起高度注意。加强未婚青年人群地中海贫血筛查,对指导合理婚配和预防重症地贫儿的出生,提高优生优育率,具有重要的意义。

Objective： To understand the status of unmarried young people carry the Mediterranean anemia in shenzhen area and types of common mutations and mutation rate, which will provide a scientific basis for reasonable healthy marriage. Method： Randomly selected from March 2014 to October 2015 to unmarried young people, a total of 6182 cases of hospital medical examination, adopt Sysmex XN-9000 automatic blood cell sextant and erythrocyte osmotic fragility test at the beginning of the Mediterranean anemia screening checks, the average red blood cell volume （MCV） 〈82 fl and the average content of red blood cell （MCH） 〈27pg or osmotic fragility of red blood cells rate〈 60% of the population, hemoglobin electrophoresis analysis for further screening for early screening positive by PCR and reverse dot hybridization method for Mediterranean anemia genetic tests to confirm, and the testing results were analyzed. Results： 6182 cases of unmarried young people at the beginning of the Mediterranean anemia screen the total positive rate was 17.3% （1069/6182） , including suspected α-thalassaemia was 12.2% （752/6182） , suspected β-thalassaemia was 5.1% （317/6182） ; Mediterranean anemia gene diagnosis is confirmed total positive rate was 11.6% （717/6182） , theα-thalassaemia was 6.7% （413/6182） , β-thalassaemia to lean heterozygote was 3.4% （209/6182） , α＋β thalassaemia was 1.5% （95/6182）;α-thalassaemia genetic defect types are mainly-SEA/αα and-α3.7/ eta and-α4.2/αα, defect rate is 60.8%, 23.5% and 10.4 respectively;β-thalassaemia genetic defect types are mainly CD41/42, CD17 and-28, defect rate of 41.1%, 28.2% and 12.9% respectively. Conclusion： The Mediterranean anemia of unmarried young men in shenzhen area has a certain carrying rate, local family planning department should draw high attention. Strengthen the unmarried young men thalassaemia screening, to guide the reasonable mating and prevention of severe pauper＇s birth, improve the rate of eugenic and superior nurture, has the vital significance.