马秋琼 周丽 严芝光 张丽娟

【摘要】目的调查防城港市边境地区儿童地中海贫血发生率、基因类型及分布特征。方法搜集防城港市边境地区0～6岁儿童997例外周血进行血常规分析，血常规筛查阳性标本再进行地贫基因检测。结果血常规筛查阳性标本369例，地贫基因检出α地贫136例，β地贫39例，α复合β地贫11例。该地区儿童地贫基因携带率为18.66%，其中α地贫14.74%[（136+11）/997]（含α复合β），β地贫5.02%[（39+11）/997]（含α复合β）。该研究检出6种α地贫等位基因SEA/、α3.7/、α4.2/、ααWS/、ααQS/、和ααCS/，其中以SEA/最为常见，构成比为51.95%（80/154）；检出8种β地贫突变类型CD4142（CTTT）、28（A>G）、CD17（A>T）、IVSⅡ654（C>T）、IVSⅠ1（G>T）、CD7172（+A）、CD26（GAG>AAG）、CAP+4043（AACC），最常见的为CD4142（CTTT），构成比为46.94%（23/49）。结论防城港市边境地区0～6岁儿童地中海贫血发生率较高，查明其基因类型及分布特征，为地贫防控工作提供了资料。

【关键词】防城港市；边境地区；儿童；地中海贫血；基因检测

中图分类号：R556 文献标识码：ADOI：10.3969/j.issn.10031383.2018.02.007

Analysis of gene types of thalassemia in children in Fangchenggang border area

MA Qiuqiong，ZHOU Li，YAN Zhiguang，ZHANG Lijuan

（The First Peoples Hospital of Fangchenggang，Fangchenggang 538021，China）

【Abstract】ObjectiveTo investigate the incidence，genotypes and distribution characteristics of thalassemia in children in Fangchenggang border area.MethodsA total of 997 children aged 0～6 years old from Fangchenggang border area were collected for blood routine analysis， and then blood routine screening for positive specimens and thalassemia gene detection were performed. Results369 positive specimens were screened out by blood routine test，and 136 cases were diagnosed as αthalassemia，39 cases as βthalassemia and 11 cases as αthalassemia combined with βthalassemia by thalassemia gene detection.The gene carrying rate of children with thalassemia in this area was 18.66%.Among them，that of αthalassemia was 14.74%（included αthalassemia combined with βthalassemia） and that of βthalassemia was 5.02% （included αthalassemia combined with βthalassemia）.Six kinds of αthalassemia alleles（SEA/，α3.7/，α4.2/，ααWS/，ααQS/ and ααCS/） were detected，of which SEA/was the most common，with a composition ratio of 51.95%（80/154）.Eight βthalassemia mutation types including CD4142（CTTT），28（A>G），CD17（A>T），IVSⅡ654（C>T），IVSⅠ1（G>T），CD7172（+A），CD26（GAG>AAG） and CAP+4043（AACC） were detected，of which CD4142（CTTT） was the most common，with a composition ratio of 46.94%（23/49）.ConclusionThe incidence of thalassemia in children aged 0～6 years old in Fangchenggang city is high.And to find out genotypes and distribution characteristics can provide data for the prevention and control of thalassemia.

【Key words】Fangchenggang；border area；children；thalassemia；gene detection

地中海贫血（地贫）是广西最常见的遗传性血液疾病，主要表现为慢性溶血性贫血，重型患者胎死宫内或出生后依赖输血生存并绝大部分在幼年期夭折[1]。广西是全国地贫高发地区，α地贫人群基因携带率为17.41%，β地贫人群基因携带率为6.37%[2]。地贫基因携带者一般无明显症状，但夫妻双方为同类型地贫基因携带者，下一代将有25%的概率成为重型地贫患者。重型地贫会给社会和家庭带来沉重的经济负担和精神负担。不同的国家或地区，不同的民族其基因的携带率和基因型不同，研究地中海贫血遗传病基因的携带率和基因种类，是地中海貧血防治决策的基础。防城港市边境地区有5个乡镇与越南接壤，是多民族聚居的地区，主要有汉、壮、瑶、京、苗等民族，一直以来又有与越南人通婚的习惯。推测该地区……