张掖地区异常血红蛋白和地中海贫血的研究

Survey of Abnormal Hemoglobins and Thalassemia in Zhangye Prefeeture of Gansu Province

目的：研究甘肃省张掖地区异常血红蛋白和地中海贫血发病情况。方法：在张掖地区普查异常血红蛋白１０９００人，普查地中海贫血２１６１人。结果：检出异常血红蛋白携带者１２人，平均发生率为０．１１％。检出地中海贫血先证者４人，平均发生率为０．１８％。应用指纹分析技术分析１１例异常血红蛋白，鉴定６种变异体，即ＨｂＧＴａｉｐｅｉ，ＨｂＧＣｏｕｓｈａｔａ，ＨｂＮｅｗＹｏｒｋ，ＨｂＪＢａｎｇｋｏｋ，ＨｂＤＰｕｎｊａｂ和ＨｂＵｂⅠ－Ⅱ。应用ＰＣＲ／ＡＳＯ技术鉴定３例β地贫，均为ＣＤ１７（Ａ→Ｔ）杂合子。发现该地区以ＨｂＧＴａｉｐｅｉ和βＣＤ１７（Ａ→Ｔ）等基因突变为主，类似中原汉族的基本特征，但有部份ＨｂＧＣｏｕｓｈａｔａ和ＨｂＤＰｕｎｊａｂ变异体存在。结论：张掖地区人口融合了其他蒙古人种和高加索人的血缘，与该地的人口变迁及“丝绸之路”的影响一致。

Purpose:To survey the incidences of abnormal hemoglobins and thalassemia in the population of Zhangye prefecture of Gansu province.Methods:10 900and 2 161 individuals in Zhangye prefecture of Gansu province were surveyed for abnormal hemoglobins(Hb) and thalassemia respectively.Results:The incidence of abnormal Hb was 0.11% and that of thalassemia was 0.18%.11 cases of abnormal Hb were characterized by fingerprint and there were 6 types of varient: Hb G Taipei,Hb G Coushatta,Hb New York,Hb J Bangkok,Hb D Punjab and Hb UbⅠⅡ had been identified.3 cases of βthalassemia were analysed by PCR/ASO technique,and all of them were CD17(A→T)heterozygotes.It was found that Hb G Taipei and β CD17(A→T)were the most prevalent mutations,which had similar characters in Han nationality of middle China,though there were a part of Hb G Coushatta and Hb D Punjab varients.Conclusion:Data from this survey support the national fusion among Han,Mongolia and Cocasian in this area.They moved along the Silk Road as reported in historical documents.