中文摘要：

目的探讨广西地区Hb H病患儿的基因类型及其临床特点。方法采用单管多重PCR结合琼脂糖凝胶电泳和反向斑点杂交确定595例患儿地贫基因型,并分析不同基因型的贫血程度。结果 595例Hb H病患儿中包括--SEA/-α3.7 232例,--SEA/αCSα174例,--SEA/-α4.2 122例,--SEA/αWSα35例,--SEA/αQSα24例,检出罕见泰国缺失型复合α地贫-2型Hb H病8例,其中合并CD41-42、CD17-28、CD26、IVS-Ⅱ-654、IVS-Ⅰ-1和CD27-28等轻型β地贫23例。其中Hb H-CS患儿贫血程度最重,Hb H-WS最轻,均为小细胞低色素贫血。结论广西地区Hb H病患儿基因型以缺失型为主,有一定的轻型β地贫合并率,非缺失型Hb H病患儿多较缺失型贫血重。

英文摘要：

Objective To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China. Methods A total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the threeα-globin gene deletion mutations （--SEA,-α3.7, and-α4.2） and three non-deletion mutations （Hb Westmead, Hb Constant Spring, and Hb Quong Sze） which are common in the Chinese population. Results Among the 595 cases, ifve common genotypes were identiifed, which were--SEA/-α3.7 （232 cases）,--SEA/αCSα（174 cases）,--SEA/-α4.2 （122 cases）,--SEA/αWSα（35 cases）, and--SEA/αQSα（24 cases）. The genotype of THAI deletion associated withα-thalassemia-2 was detected in eight cases. Sixβ-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identiifed in 23 cases. All children with HbH disease had microcytic hypochromic anemia;children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia. Conclusions Deletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild beta-thalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.