山东医药Issue(48)：19-21,3.DOI:10.3969/j.issn.1002-266X.2014.48.006
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
Analysis of Hb Westmead mutation genotype, clinical characteristics, nationality and distribution in Guangxi region
摘要
Abstract
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 (P<0.05);Hb and MCV of Hb H disease group were lower than those in Heterozygous group ( P<0.05) .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 .关键词
地中海贫血/Hb Westmead突变/地区分布/民族分布/基因频率Key words
thalassemia/Hb Westmead mutation/region distribution/ethnic distribution/gene frequencies分类
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陈文强,陈萍,庞丽红,李树全,林伟雄,谢湘芝,杨德寨..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[J].山东医药,2014,(48):19-21,3.基金项目
广西自然科学基金资助项目（2011GXNSFA018251）；广西地方性高发疾病防治研究重点实验室开放课题基金资助项目（ KFJJ2010-38）。 （）
