昆明地区儿童地中海贫血筛查和基因诊断分析  

Biochemical screening and genetic diagnosis of thalassemia in children from Kunming

作　　者：温柏平[1] 樊茂[1] 代宏剑[1] 庄宇[1] 刘红林[1] 杨俊逸[1] 杨晓红[1] 邓文国 

机构地区：[1]昆明市儿童医院检验科,云南昆明650034 [2]广州达安临床检验中心,广东广州510080

出　　处：《中国当代儿科杂志》2011年第2期104-106,共3页Chinese Journal of Contemporary Pediatrics

摘　　要：目的调查云南省昆明地区儿童地中海贫血(地贫)基因突变类型和频率。方法对昆明地区1338例儿童进行RBC脆性、MCV、血红蛋白电泳生化筛查。对筛查阳性的α-地贫患儿用gap-PCR方法、β-地贫用PCR-RDB方法进行基因诊断。结果地贫生化筛查阳性率为11.36%(152例),基因诊断阳性率为8.59%(115例)。115例经基因诊断确诊为地贫的样本中,α-地贫43例,β-地贫68例,α合并β地贫4例;43例α-地贫中,--SEA/αα型占47%,-α4.2/αα型占21%,HbH病占14%;68例β-地贫共检测出6个基因位点发生突变,突变频率依次为βE(32%)、CD41-42(24%)、CD17(23%)、IVS-II654(10%)、CD71-72(10%)、-28(1%)。结论昆明地区儿童地贫基因突变率较高,开展婚检及产检生化筛查和基因诊断十分必要。Objective To investigate the types and frequency of gene mutations in children with thalassemia in Kunming,Yunan Province.Methods A biochemical screening for thalassemia was performed by testing RBC fragility,MCV and hemoglobin electrophoresis on 1338 children from Kunming,Yunnan Province.Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB.Results The positive rate of the biochemical screening for thalassemia was 11.36%（152 cases）.The positive rate of genetic diagnosis was 8.59%（115 cases）.Of the 115 cases,α-thalassemia was found in 43 cases,β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.——SEA/αα accounted for 47%,-α4.2/αα accounted for 21%,and HbH disease accounted for 14%.Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest（32%）,followed by CD41-42（24%）,CD17（23%）,IVS-II654（10%）,CD71-72（10%）,and-28（1%）.Conclusions The frequency of gene mutations for thalassemia is high in children from Kunming,Yunnan Province.Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.

关 键 词：地中海贫血 生化筛查 基因诊断 儿童 

分 类 号：R725.5[医药卫生—儿科]