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目的了解海南省三亚地区育龄妇女β-地中海贫血的分子流行病学特征。方法采集3613例三亚市户籍育龄妇女外周血进行血细胞分析,对其中红细胞平均体积(MCV)<82fl者进行血红蛋白电泳,以Hb A2>3.5%和(或)Hb F>2.0%作为β-地贫初筛阳性指标。对初筛阳性者进一步行β-地贫基因分析。结果 3613例育龄妇女共检出β-地贫携带者161例,携带率为4.46%,其中汉族携带率为2.75%,黎族携带率为7.56%,黎族明显高于汉族(χ2=44.01,P<0.01)。共检出8种β-地贫基因突变类型,其中汉族以CD41-42(-TCTT)为主(50.00%),IVS-II-654(C>T)(16.13%)、CD17(AAG>TAG)(12.90%)、CD71-72(+A)(8.07%)及-28(A>G)(6.45%)也较为常见,而黎族则几乎均为CD41-42(-TCTT)(95.88%),其它突变类型较为少见。结论三亚地区育龄妇女β-地贫携带率较高,进一步加强该地区地贫防控宣教力度,正确引导育龄人群做好地贫筛查和产前诊断工作势在必行。
Objective To investigate the molecular epidemiology of β-thalassemia in women of childbearing age in Sanya, Hainan Province. Methods Peripheral blood samples from 3613 pregnant women of reproductive age in Sanya City were collected for hematology analysis. Hemoglobin electrophoresis was performed on those with an average volume of erythrocytes (MCV) less than 82%. Hb A2> 3.5% and (or) Hb F> 2.0% Preliminary screening of positive indicators. Β-thalassemia genetic analysis of further positive screening. Results Among 3613 women of childbearing age, 161 carriers of β-thalassemia carriers were detected, with a carrying rate of 4.46%. Among them, the carrying rate of Han was 2.75% and the carrying rate of Li was 7.56%. Li nationality was significantly higher than Han nationality (χ2 = 44.01, P < 0.01). A total of 8 types of β-thalassemia gene mutations were detected, of which, Han population was predominantly CD41-42 (-TCTT) (50.00%), IVS-II-654 ) (12.90%), CD71-72 (+ A) (8.07%) and -28 (A> G) (6.45%) were also common, while Li ethnicity was almost CD41-42 (-TCTT) Other types of mutations are rare. Conclusion The incidence of β-thalassemia in women of childbearing age in Sanya is relatively high. It is imperative to further strengthen the prevention and control of thalassemia-endemic children in this area and correctly guide the population of child-bearing age to do the screening and prenatal diagnosis of thalassemia.