新疆喀什地方血红蛋白病的研究

目的；研究新疆喀什地区血红蛋白病的发生及特点，方法：异常血红蛋白携带调查采用微量电泳法，地中海贫血先证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（

Study of hemoglobinopathy in Kashi district of Xinjiang]

OBJECTIVE: To study the hemoglobinopathy in Kashi district of Xinjiang. METHODS: 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 [alpha 19(AB1)Ala-->Glu] and HbD Punjab[P121(GH4)Glu-->Gln] were found in the structural analysis of 8 cases of abnormal hemoglobin. Four kinds of mutation: CD8(-AA),CD8/9(+G),CDs41/42(-TTCT) and IVS-I-5(G-->C) were revealed at the gene identification of 10 propositus of beta-thalassemia. HbJ Tashikuergan was firstly reported in the world, and CD8(-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.