Abstract: Objective To explore the types and frequency of gene mutations in children with thalassemia in Luzhou,Sichuan Province. Methods A biochemical screening for thalassemia was performed by laboratory examination RBC osmotic fragibity,serum ferritin and hemoglobin electrophoresis on 556 children with anemia from Luzhou,Sichuan Province.Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-Reverse Dot Blot(PCR-RDB). Results The positive cases of the biochemical screening for thalassemia were 176(31.65%).The positive of genetic diagnosis was 136(24.46%).Of the 136 cases,α-thalassemia was found in 53 cases,β-thalassemia in 81 cases and α-combined β-thalassemia in 2 cases.7 types of mutation genotypes were detected in 53 cases of α-thalassemia ,the proportions of--α^SEA/ααwere 39.62%,the proportions of -α^3.7/αα were 26.42%.7 different mutalion were identified in 81 cases of β-thalassemia,there were 14 different gene types.CD17(A→T)、IVS-Ⅱ-654(C→T) and CD41/42(-TTCT) were the most frequent genic mutations. Conlusions The frequency of gene mutations for thalassemia is high in children from Luzhou,Sichuan province.Gene diagnosis is a accurate and reliable method to diagnose thalassemia.

Key words: thalassemia, biochemical screening, gene diagnosis

摘要： 目的 分析四川泸州地区地中海贫血的发病率及基因突变类型和构成比。方法 对泸州地区556例贫血患儿采用红细胞渗透脆性、血清铁蛋白、血红蛋白电泳进行筛查,筛查阳性者应用PCR方法结合DNA芯片杂交技术以及反向斑点杂交法分别进行α、β-地中海贫血基因突变位点分析。结果 556例贫血患儿中,地贫筛查阳性176例(阳性率31.65%),基因诊断阳性136例(阳性率24.46%),其中α-地贫53例,β-地贫81例,α合并β地贫2例。53例α-地贫患儿共检出7种突变基因型,其中--α^SEA/αα缺失型占39.62%,-α^3.7/αα缺失型26.42%。82例β-地贫患儿共检测出7种基因突变类型,有14种基因组合形式。其中以CD17(A→T)、IVS-Ⅱ-654(C→T)和CD41/42(-TTCT)最多见。结论 四川泸州地区地中海贫血基因突变发生率较高;基因诊断是确诊地中海贫血的重要标准。

关键词: 地中海贫血, 筛查, 基因诊断