新疆喀什地区血红蛋白病的研究  

Study of hemoglobinopathy in Kashi district of Xinjiang

作　　者：余伍忠[1,2] 张占平[1,2] 李厚钧[1,2] 仇东辉 兰科学[1,2] 周常文 张宇红 罗书练[1,2] 唐军[1,2] 

机构地区：[1]兰州军区乌鲁木齐总医院 [2]解放军第十二医院

出　　处：《中华血液学杂志》1998年第4期198-200,共3页Chinese Journal of Hematology

基　　金：解放军总后勤部卫生部科研基金

摘　　要：目的：研究新疆喀什地区血红蛋白病的发生及特点。方法：异常血红蛋白携带者调查采用微量电泳法。地中海贫血先证者筛查按两步筛选方案进行。异常血红蛋白的一级结构分析应用指纹分析技术完成。地中海贫血基因鉴定用ＰＣＲ／ＡＳＯ技术实施。结果：喀什地区异常血红蛋白平均发生率为０．８％，地中海贫血发生率为３．０７％，两者均明显高于全国和新疆的平均水平。８例异常血红蛋白一级结构分析发现ＨｂＪＴａｓｈｉｋｕｅｒｇａｎ［α１９（ＡＢ１）Ａｌａ→Ｇｌｕ］和ＨｂＤＰｕｎｊａｂ［β１２１（ＧＨ４）Ｇｌｕ→Ｇｌｎ］两种变异体。１０例β地中海贫血进行基因鉴定，确定了ＣＤ８（－ＡＡ）、ＣＤ８／９（＋Ｇ）、ＣＤｓ４１／４２（－ＴＴＣＴ）和ＩＶ－Ⅰ－５（Ｇ→Ｃ）等四种基因突变型。其中的ＨｂＪＴａｓｈｉｋｕｅｒｇａｎ［α１９（ＡＢ１）Ａｌａ→Ｇｌｕ］系世界首次报道，ＣＤ８（－ＡＡ）和ＣＤｓ８／９（＋Ｇ）为在中国人中首次发现。结论：对喀什地区血红蛋白病的研究表明，异常血红蛋白和地中海贫血的类型特点既有别于我国其它地区，又与邻近的中亚等国不完全相同，形成了该地区独有的遗传特征。Objective:To study the hemoglobinopathy in Kashi district of Xinjiang. Methods: [WTBZ]The abnormal hemoglobin carriers were investigated with microelectrophoresis.The propositus of thalassemia were tested with two steps of screening technique.The structural analysis of abnormal hemoglobin was carried out with finger print analysis technique.Gene identification of thalassemia was performed with PCR/ASO technique. Results: The incidence of hemoglobinopathy and thalassemia were 0.8%and 307%,respectively. Both were higher than the average level in the population of Xinjiang and the whole country.Two kinds of variant of HbJ Tashikuergan [α19(AB1)Ala→Glu]　and HbD Punjab[P121(GH4)Glu→Gln] were found in the structural analysis of 8 cases of abnormal hemoglobin. Four kinds of mutation: CD8(-AA),CD8/9(+G),CDs41/42(-TTCT) and IVSⅠ5(G→C) were revealed at the gene identification of 10 propositus of βthalassemia.HbJ Tashikuergan was firstly reported in the world, and CD8(-AA)and CDs8/9(+G) were firstly discovered in China.Conclusion:The types and distribution of abnormal hemoglobin and thalassemia in Kashi district were different from those in other areas of our country,and also unsimilar to our neighbour countries.

关 键 词：血红蛋白病 地中海贫血 流行病学 

分 类 号：R556.701[医药卫生—血液循环系统疾病] R556.610.1[医药卫生—内科学]