Analysis of Hb Westmead mutation genotype, clinical characteristics, nationality and distribution in Guangxi region
CHEN Wen-qiang
CHEN Ping
PANG Li-hong
LI Shu-quan
LIN Wei-xiong
XIE Xiang-zhi
YANG De-zhai
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 .
Keywords：thalassemiaHb Westmead mutationregion distributionethnic distributiongene frequencies
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 19-21 )