【摘要】 目的：研究海南省汉族人群的α地中海贫血的分子基础。方法：应用醋酸纤维素薄膜电泳筛查海南省汉族人群新生儿中的α地中海贫血携带者和应用聚合酶链反应（PCR）技术筛查α－地贫Hb Bart＇s携带者中的东南亚缺失型突变（－－SEA／，简称－－／）。结果：在953人中发现43例α地中海贫血的基因携带者，携带率为4．51％，其中23例为东南亚缺失型突变携带者，此型α地中海贫血突变的携带率为2．41％，占海南省汉族人群中α地中海贫血总数的53．49％。结论：海南省是α地中海贫血疾病的高发区，东南亚缺失型突变是海南省汉族人群中α地中海贫血的主要基因类型。更多还原

【Abstract】 Objective： To investigate the molecular basis of α－thalassemia in Han nationality crowd of Hainan island． Method： The carriers of α－thalassemia in newborns of Han nationality of Hainan province were screened by cellulose acetate membrane electrophoresis and the carriers of deficiency mutation of southeast Asian were screened by polymerase chain reaction． Results： 43 cases of 953 newborns were found to be the carriers of α－thalassemia gene and the carrying rate was 4．51％． 23 cases out of 43 carriers of α－thalassemia were found to be the carriers of deficiency mutation of southeast Asian and the carrying rate of mutation was 2．41％， which was 54．39％ in all carriers of α－thalassemia in Han nationality crowd of Hainan． Conclusion： Hainan island is a region of high－prevalence of α－thalassemia and the deficiency mutation of southeast Asian is the main type of α－thalassemia in Hainan province．更多还原