中文摘要：

目的 了解广西地区HbH病的检出情况及基因分型特征.方法 采用免疫磁珠法提取广西地区50 377名疑诊地中海贫血（地贫）患者基因组DNA.采用跨越缺口PCR检测3种常见缺失型α地贫基因（--SEA、-α3.7、-α4.2）突变情况,采用PCR-反向斑点杂交法检测常见α及β地贫基因点突变情况.对于常规地贫检测基因型与临床表型不合的标本,采用多重连接探针扩增及α或β珠蛋白基因测序技术检测基因突变情况.结果 共检出1 571例HbH病患者,基因型以--SEA/-α3.7最为常见,占39.40％.其次为--SEA/αCSα、--SEA/-α4.2和--SEA/αWSα,分别占20.69％、19.54％和15.85％.33例Hb H患者基因型为αCS纯合子点突变,5例为泰国型缺失合并α缺失或点突变（--THAI/αCSα、--THAI/αWSα、--THAI/-α4.2、--THAI/-α3.7）.95例患者合并β地贫基因突变.检出1例基因型为--SEA/-α21.9的HbH病患者,国内外尚未见报道.结论 广西地区Hb H病处于高发状态,其基因突变类型多样,可发生新的突变,也可合并β地贫突变.

英文摘要：

Objective To analyze the status and genotypes of Hb H disease in GuangXi area.Method Human genomic DNA of 50 377 suspected thalassemia patients was extracted from blood,amniotic fluid and chorionic villi by beads.The deletion of α-thalassemia was detected by Gap-PCR,and the gene mutation of α or β-thalassemia was detected by PCR-RDB.Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question.Results There were 1 571 Hb H disease patients in total from 2011 to 2013,and the detection rates were 2.82％,3.54％ and 3.00％ respectively.The vast majority of patients had the Southeast Asian deletion （--SEA） on one allele.The-α3.7 （rightward） deletion was the most common on the other allele,followed by Hb Constant Spring （Hb CS）,the-α4.2 （leftward） deletion,Hb Westmead （Hb WS） and Hb Quong Sze （Hb QS） mutations.There were 33 Hb H disease patients which genotypes was αCSα/αCSα.Five patients had THAI deletion （--THAI） with deletion or point mutation of α-thalassemia.95 patients had concomitant β-thalassemia （β-thal） heterozygosity.Tere was a novel genotype of--SEA/-α21.9 causing Hb H disease.Conclusion GuangXi area had a high accidence of Hb H disease,the results reflected the genetic diversity and genetic heterogeneity of Hb H disease,the latter may also occur new mutations or combined β-thalassemia,some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease.