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

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 (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 .%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Hb 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／αWSα基因型（即Hb H病）49例（17．44％）、-α3．7／αWSα基因型23例（8．19％）、-α4．2／αWSα基因型10例（3．56％）、αCSα／αWSα基因型6例（2．13％）。281例Hb Westmead 基因突变患者中，分布在南宁46例、百色51例、崇左27例、河池38例、其余地区119例；分布在壮族196例，汉族79例，瑶族、苗族等6例。 Hb H病患者、Hb Westmead杂合子患者、正常人群的血红蛋白（ Hb）、红细胞体积（ MCV）均依次升高，P均＜0．05。结论广西地区有较高的地中海贫血患者Hb Westmead突变基因携带率，主要以杂合子的形式存在；多见于壮族，主要分布在广西中部及西南地区。 Hb West-mead杂合子、Hb H病患者的Hb和MCV均降低，Hb H病患者降低更明显。