中文摘要：

目的探讨1097例南宁地区0-7岁儿童β地中海贫血不同基因型和表型血液学特征。方法于2010—2012年于广西壮族自治区妇幼保健院就诊的不同程度贫血的0-7岁患儿,采用RDB-PCR技术检测β-地中海贫血和GAP-PCR技术检测α-地中海贫血基因类型,因经常规基因检测未能确诊的未知突变或缺失,采用直接DNA测序或是MLPA法。结果发现892例常见β地中海贫血突变和155例合并不同类型α地中海贫血的β地中海贫血。共检出11种常见β基因型,以CD41-42（-CTTT）和CD17（A-T）为主。β＋基因型合并其他α地中海贫血基因的缺失与合并αα/αα血液学参数表现出没有多大区别。单纯β0与β^0/α^＋和β^＋/α^0基因型比较各指标差别有显著性差异（P〈0.05）,单纯β^＋与β^＋/α^＋和β^＋/α^0基因型比较各指标差别均无显著性差异（P〉0.05）结论 1097例南宁地区0-7岁儿童的β0或β＋合并不同形式的α基因的发病率高,并且血液学特点与单纯的β地中海贫血临床表型相似,无法通过血液学指标鉴别复合型与单纯性的个体,需要依赖分子基因诊断技术,更好完善地中海贫血基因诊断流程和为临床遗传咨询提供参考。

英文摘要：

ObjectiveTo investigate the genotype and phenotype haematological characteriistics of β-thalassemia in1097 cases aged 0 to 7 years.MethodsDuring 2010-2012 years in our hospital children suspected of different degreeof anemia aged 0-7 years old were detected the mutation of β- thalassemia and the common α-thalassemia by usingRDB-PCR method and gap-PCR. For unkown mutations or deletion which can＇t be detected by the conventional genetictesting,direct DNA sequencing or MLPA method was used.ResultsTotally 892 cases of common beta thalassemiamutations and 155 cases with different types of alpha Mediterranean anemia thalassemia were found. There were 11 kinds of gene type,with CD41-42（-CTTT）and CD17（A-T）as the major type.β ＋ genotype merge with other alphathalassemia gene showed no difference from those combined with normal alpha function gene hematological parameters.There was a signficant difference in each index（P〈0.05）between the β0 and β0/α＋.There were no significant differ-ences in each index（P〉0.05）between theβ＋ andβ＋/α＋.ConclusionThere are high rates of β0 and β＋ combinedwith different forms of α thalassemia among 1097 cases aged 0-7 years in Nanning children,which shows similar hemato-logical characteristics. Combination and simple thalassemia can＇t be recognized by the hematology parameters. The genemutation technology can improve thalassemia gene diagnosis process and provide the reference for clinical genetic coun-seling.