海南省琼中县3392名中学生地中海贫血血细胞参数与基因检测结果分析

Blood cell paramenters analysis and gene detection in 3392 middle school students in Qiongzhong County, Hainan Province

目的研究海南省琼中黎族苗族自治县地中海贫血血细胞参数及基因检测结果,为有效预防和监控该地区地中海贫血提供依据。方法采集海南省琼中县3392名中学生外周血进行血常规、血红蛋白电泳和脆性试验筛查,阳性样本行基因检测,对基因类型、突变频率及血细胞参数等情况进行分析。结果 3392名受检者中,初筛阳性1439例,经基因检测确认阳性1049例,其中单纯α地贫784例(74.7%);单纯β地贫143例(13.6%);α、β复合型地贫为122例(11.6%)。α地贫以αα/-α^(3.7)(33.4%)、αα/-α^(4.2)(31.3%)为主,β地贫中β^(CD41-42)/β~N(76.2%)突变最常见;除HbA和女性血红蛋白外,其它各血细胞参数在健康组、α地贫、β地贫3组间均存在统计学差异(P<0.05);血常规、血红蛋白成分分析联合初筛效果最佳。结论琼中县α、β地贫携带率及基因型分布符合海南地区的基本特点,各类地贫血细胞参数与基因相关性、最适初筛方案均可为该地区的地贫防控工作提供依据。

Objective To investigate the blood cell parameters and gene detection results of thalassemia patients in Qiongzhong County of Hainan Province, and to provide the basis for effectively preventing and monitoring thalassemia in this region. Methods Blood routine, hemoglobin electrophoresis and brittleness test were performed in the peripheral blood samples from 3392 middle school students in Qiongzhong County of Hainan province. Positive samples were used to detect genotype, mutation frequency and blood cell parameters. Results Among the 3392 students, 1439 were positive for initial screening and 1049 were positive for gene identification, of which 784 cases were simple alpha thalassemia genotype（74.7%）, 143 cases were simple beta alpha thalassemia genotype（13.6%）, and 122 cases were alpha and beta complex genotype（11.6%）. The alpha thalassemia genotype is mainly αα/-α^3.7（33.4%） and αα/-α^4.2（31.3%）. β^CD41-42/β^N（76.2%） mutation is most common in beta thalassemia genotype. There were statistically significant differences among the healthy control, alpha thalassemia and beta thalassemia in the detection indexes excluding Hb A and female hemoglobin（P 0.05）. The combination of routine blood test, hemoglobin component analysis and primary screening had the best performance. Conclusions The carrying rate and genotype distribution of alpha and beta thalassemia in Qiongzhong County are in accordance with the basic characteristics of Hainan Province. The blood cell parameters, genetic association and optimal primary screening program of each type of thalassemia are able to offer the foundation for preventing and controlling thalassemia in this area.