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海口地区1201例血红蛋白病筛查及基因检测的结果

, PP. 807-809

Keywords: 海口地区,血红蛋白病,地中海贫血

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Abstract:

目的了解海口地区人群血红蛋白病的主要类型,为地中海贫血防控和医学研究提供有益的数据资料。方法采用毛细管电泳法筛查血红蛋白病,Gap-PCR、PCR-RDB技术检测地贫表型阳性人群3种缺失型、3种非缺失型α-地贫;17种β-地贫。结果1201例血红蛋白电泳病例,检出309例异常,阳性率25.73%,α-地贫表型阳性病例数最多,占总异常病例数70.87%,地贫外的异常血红蛋白病例占2.27%。经确诊,α-地贫检出12种基因型,--SEA/αα、-α3.7/αα、-α4.2/αα三种基因型病例为主,β-地贫检出7种异常基因型,CD41-42/N、IVS-Ⅱ-654/N为主。结论海口地区血红蛋白病以地贫,特别是α-地贫为主,应重视地贫防控,推广血红蛋白电泳技术。

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