廖颖萍,胡新年,别小帅,许伟华,罗伟平

目的：对1例异常血红蛋白Hb G-Honolulu的患者进行临床特征分析。方法：采集患者外周血进行血常规及血红蛋白电泳分析，应用gap-PCR、PCR结合反向点杂交（PCR-RDB）和Sanger测序的方法对患者DNA进行地贫基因检测。结果：患者为HBA2:c.91G>C杂合突变，即Hb G-Honolulu携带者。其血常规表现为小细胞低色素，Hb正常范围，血红蛋白电泳提示Hb A、Hb A2降低，可见52.2%的Hb Z异常带。结论：Hb G-Honolulu杂合患者有小细胞低色素表现，但无贫血等临床症状，仅在血红蛋白电泳分析中提示有异常血红蛋白，进一步进完善基因测序可发现。

异常血红蛋白病；地中海贫血；分子诊断。

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