广西地区地中海贫血基因 Hb Westmead 突变情况及其临床、地域和民族分布特点.pdf

广西地区地中海贫血基因 Hb Westmead 突变情况及其临床、 地域和民族分布特点 陈文强;陈萍;庞丽红;李树全;林伟雄;谢湘芝;杨德寨 【摘要】Objective To explore the geographical distribution of Hb Westmead in Guangxi region , ethnic distribution of gene frequencies and characteristics of laboratory .Methods 11,523 cases outpatients were detected by blood hemoglobin screening, thalassemia genotype, gene type composition, region distribution and ethnic distribution were analyzed .Results Gene type composition, 281 cases of Hb westmead mutation were found , occupied 2.44% of all 11,523 case outpatients. There were 193 cases of Heterozygous in all positive cases (68.68%), 49 cases of Hb H disease (--SEA/αα) (17.44%), 39 cases of others genotype (ααCS/αWSα,αα-4.2/αWSα,αα-3.7/αWSα) (13.88%).Region distribution, there were 51 cases Hb westmead mutation in Baise, 46 cases in Nanning, 38 cases in Hechi, 27 cases in Chongzuo.The ethnic distribution, there were 196 cases of Hb westmead mutation in Zhuang nationality , 79 cases in Han nationality , 6 case in other nationality . Hb and MCV of heterozygous group and Hb H disease group were lower than those in normal group (P0.05);Hb and MCV of Hb H disease group were lower than those in Heterozygous group ( P0.05) .Conclusions There was a high disease in- cidence of Hb Westmead mutation in Guangxi , most positive cases were heterozygous , most of positive cases were Zhuang na-tionality;most of positive cases were located in middle and west south district of Guangxi .Hb and MCV decreased in Hb Westmead Heterozygous and Hb H disease cases , which were more lower in Hb H disease cases .% 目的：检测 广西地区地中海贫血基因 Hb Westmead 突变情况，并分析其临床、地域及民族 分布特点。方法采用 Gap-PCR 法、反向斑点杂交法检测 11523 例门诊患者的 H Westmead 基因型，记录 Hb Westmead 基因突变患者的籍贯和民族等资料。根 据基因型检测结果，采用血细胞自动分析仪对 αα／αWSα、--SEA ／αWSα基因 型患者和随机选择的无 Hb Westmead 基因突变的 200 例正常人群进行血常规检 测。结果 11523 例患者中，检出 Hb Westmead 基因突变患者 281 例 （2 ．44％），其中 αα／αWSα 基因型（即杂合子）193 例（68 ．68％）、-- SEA ／αWS