重庆市学龄前儿童α地中海贫血的分子流行病学研究  

Prevalence and molecular analysis of α-thalassemia in preschool children in Chongqing city

作　　者：于洁[1] 宪莹[1] 姚秀云[1] 肖剑文[1] 刘海燕[1] 陈仕平 张磊 张渝美[3] 秦蓁子 繁荣 钟晓芸[1] 

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科、儿童发育疾病研究教育部重点实验室、儿科学重庆市重点实验室、重庆市儿童发育重大疾病诊治与预防国际科技合作基地,400014 [2]深圳华大基因 [3]重庆医科大学附属儿童医院检验科,400014 [4]江北区妇幼保健院

出　　处：《中华血液学杂志》2014年第5期419-423,共5页Chinese Journal of Hematology

基　　金：重庆市卫生局医学科学技术研究重点资助项目（2010-1-42）

摘　　要：目的 调查重庆市学龄前儿童α地中海贫血（α地贫）基因的携带率、突变类型及分布特征.方法 以整群随机抽样的方法选取重庆市户籍1 057名学龄前儿童为研究对象,采用全自动血细胞分析仪进行红细胞参数分析,采用醋酸纤维薄膜电泳和碱变性试验分析血红蛋白各组分,并对所有样本进行α地贫基因分析.结果 1 057名儿童中α地贫基因携带者55例,等位基因55个,α地贫的基因携带率为5.20％.在55例α地贫基因携带者中,共检出5种缺失型α地贫,最常见的三种依次为：-α3.7（54.55％）、--SEA（18.18％）和-α4.2（9.08％）;检出8种非缺失型α地贫,包括1例Hb Quong Sze和7例α珠蛋白基因新突变.检出α三联体24例,人群基因携带率为2.55％.发现2例发生在α珠蛋白基因上的异常血红蛋白病Hb J-Wenchang-Wuming和Hb Arya,首次在中国人中发现并报道Hb Arya.结论 该研究阐明了重庆市α地贫的人群携带率和详细的基因突变种类,首次报道了重庆市人群中α三联体的携带率.研究资料为该地区的遗传咨询和儿童将来的婚育指导提供依据.Objective To investigate the incidence and the gene mutation frequencies and patterns of α-thalassemia in preschool children in Chongqing city. Methods Cluster random sampling was used. A total of 1 057 preschool children in three areas of Chongqing were screened by using routine blood test and hemoglobin electrophoresis analysis. Molecular analysis carried out for all the samples. Results Of the 1 057 samples, 55 cases were diagnosed as being carriers of α-thalassemia, which included 80 allele genes. Therefore, the frequency of α-thalassemia carriers in Chongqing was 5.20%. Of the 55 α-thalassemia carriers, five different deletions of α-thalassemia were identified, the three most common deletion types and proportions were 54.55% for the - a37 deletion, 18.18% for -- SEA deletion, and 9.08% for the - a42 deletion, respectively; eight types of nondeletion defects were determined, containing one case of Hb Quong Sze and seven novel mutations of α-globin gene. Furthermore, 24 cases of α-Triplication were detected with the α- Triplication carrier rate of 2.55%. In addition, in this study we also found two cases of abnormal hemoglobin disorders occurred on α-globin gene, Hb J-Wenchang-Wuming and Hb Arya. Hb Arya was characterized in the Chinese population for the first time confirmed by literature retrieval. Conclusions In this study, we have clarified the carrier frequency and molecular spectrum of α-thalassemia in Chongqing, and we first reported the carrier incidence of α-Triplication in Chongqing. The materials obtained from this study would be of valuable reference for genetic counseling and the examination instruction of children in this area.

关 键 词：Α地中海贫血 流行病学 患病率 儿童 

分 类 号：R725.5[医药卫生—儿科]