中文摘要：

目的：了解本地区β-地中海贫血表型儿童中地中海贫血发生情况、基因突变类型。方法：选取2010年1月-2014年6月在该院就诊的1 713例β-地中海贫血表型儿童进行β-地中海贫血基因检测,确诊为β-地中海贫血者再进行α-地中海贫血基因检测。结果：1 713例β-地中海贫血高危儿童中确诊为β-地中海贫血儿童1 428例（83.36%）,其中合并α-地中海贫血222例（15.55%）。共发现11种突变、30种基因类型中以CD41-42（-TCTT）（42.23%）和CD17（A→T）（27.31%）杂合子突变为主,双重杂合子突变111例（7.77%）,纯合子突变42例（2.94%）。6种α-地中海贫血突变、11种基因类型中以--sea（31.99%）、αWSα（18.91%）和-α3.7（18.47%）突变杂合子最常见,Hb H病3例（1.35%）,其中合并β-地中海贫血双重杂合子和纯合子突变30例（13.51%）。结论：本地区儿童地中海贫血突变类型、基因类型多样,中重型β-地中海贫血及α-合并β-地中海贫血发生率高,应加强地中海贫血干预工作,以避免中间型或重型地中海贫血儿的出生。

英文摘要：

Objective： To understand the prevalence and types of gene mutation of thalassemia in children with β- thalassemia phenotype in the region. Methods： β- thalassemia gene detection was performed among 1 713 children with β- thalassemia phenotype from this hospital from January 2010 to June 2014,the children diagnosed as β- thalassemia definitely received α- thalassemia gene detection.Results： Among 1 713 children,1 428 children（ 83. 36%） were diagnosed as β- thalassemia definitely,including 222 children（ 15. 55%） combined with α- thalassemia. Eleven kinds of mutation were detected. Heterozygous mutations of CD41- 42（- TCTT）（ 42. 23%） and CD17（ A→T）（ 27. 31%） were the main types among 30 genotypes. The detection rates of double heterozygous mutation and homozygous mutation were 7. 77%（ 111 children） and 2. 94%（ 42 children）. Six kinds of α- thalassemia mutation were detected.Heterozygous mutations of-- sea（ 31. 99%）,αWSα（ 18. 91%） and- α3. 7（ 18. 47%） were the main types among 11 genotypes. The detection rate of heterozygous mutation and homozygous mutation of β- thalassemia was 13. 51%. Conclusion： The mutation types and genotypes of thalassemia are various among the children in the region,the incidence rates of moderate and severe β- thalassemia and α- thalassemia combined with β- thalassemia are high,intervention of thalassemia should be strengthened to avoid the birth of infants with intermediate type or severe thalassemia.