广东惠州市城镇人群α、β地中海贫血流行病学调查及突变类型分析

目的探讨广东省惠州市城镇人群α、β地中海贫血患者基因突变类型、基因携带率及其特征情况。方法选择2010年1月-2012年10月在惠州市中心人民医院住院或门诊的患者和健康体检人员4500例,新生儿脐带血2000例,全部为广东省惠州市城镇户口。检测人员抽取外周血或脐带血后,采用RBC参数和血红蛋白电泳分析,以脐带血电泳出现Hb Bart’s作为诊断α地中海贫血的阳性表型指标;以平均红细胞体积(MCV)<80f1和HbA2>3.5%为β地中海贫血阳性表型指标。对脐带血用gap-PCR法进行基因分型。β地中海贫血阳性患者采用RDB法进行基因分型。结果检出Hb Bart's阳性样品195例,阳性检出率为9.75%。经基因类型分析,主要为__SEA/αα、-a3.7/aa两种基因型;检出β地中海贫血者179例,基因携带率为3.97%,最常见的突变类型为4种,即CD41/42(-TCTT)、IVS-2-654(C-T)、CD-17,-28,占所有检出突变位点的90.5%。结论广东惠州市城镇人群α、β地中海贫血基因携带率比较高,在预防中应给予重视。为进行遗传咨询和制定该地区基于人群筛查的α、β地中海贫血提供了有价值的科学依据。

Objective To investigate the situation of alpha, beta Mediterranean anemia patients gene mutation type,gene carrying rate and characteristics in Guangdong Huizhou town. Methods Choose 4500 patients who were received and cured in our hospital or outpatient service of patients and health personnel from January 2010 to October 2012,2000 cases of neonatal umbilical cord blood all of them registered in Guangdong Huizhou province and were permanent residence,testing personnel extracted peripheral blood,used the RBC parameters and hemoglobin electrophoresis analysis,in cord blood electrophoresis appear Hb Bart＇s as a diagnostic ct Mediterranean anemia positive phenotypic indexi; mean corpuscular volume （MCV）〈80 fl and HbA2〉3.5% as β Mediterranean anemia positive phenotypic index.For the ubilical cord blood with gap - PCR method for gene parting-β Mediterranean anemia positive patients were used RDB method for gene parting. Results Detection Hb Bart＇s positive samples 195 cases, positive detection rate is 9.75%, the genetic type analysis,mainly for the -SEA/a alpha,aa^3.7/aa two genotypes; detection 13 Mediterranean anemia is 179 cases, gene carrying rate was 3.97%,4 kinds of mutation types that were the most common： CD41/42（-TCTT）／IVS-2- 654（C-T）／CD-17,-28／accounting for all detection mutations of 90.5%. Conclusion Guangdong huizhou town a Mediterranean anemia gene carrying rate is higher, which should be paid attention to prevention. And provides valuable scientific basis.For genetic counseling and establish the region based on the screening of alpha, beta Mediterranean anemia.