德宏州173例地中海贫血患者αβ复合型基因型检测

Detection Rate and Genotype of α β Compound Thalassemia Type in 173 Cases of Thalassemia in Dehong Prefecture

目的：研究云南省德宏州αβ复合型地中海贫血的检出率、基因型及临床表现。方法：采用反向斑点杂交法（RDB）诊断为β地中海贫血173例,再进一步采用GAP-PCR琼脂糖凝胶电泳检测常见三种α地中海贫血基因缺失类型;结果：在173例β地中海贫血患者标本中检出30例α地中海贫血缺失型,即αβ复合型地中海贫血检出率为17.34%;结论：云南省德宏州αβ复合型地中海贫血检出率高于广东地区。

Objective：To research the detection rate,genotypes and clinical manifestation of α,β-compound Thalassemia in Dehong prefecture.Methods：173 cases of β-Thalassemia were diagnosed by RDB.Then the common 3 kinds of gene deletion α-Thalassemia were cheked by GAP-PCR.Results：There were 30 cases of gene deletion α-Thalassemia in 173 samples of β Thalassemia.So the α,β-compound Thalassemia detection rate was 17.34%.Conclusion：The α,β-compound Thalassemia detection rate in DeHong prefecture is higher than GuangDong region.