三亚市儿童地中海贫血筛查及基因分析  

Screening and genetic diagnosis of childhood thalassemia in Sanya city

作　　者：陈爱华[1] 陈垂海 陈求珠 周祥敏 陈垂婉[1] 陈垂任 霍开明[2] 

机构地区：[1]三亚市妇幼保健院儿科和检验科,海南三亚572000 [2]海南省农垦总医院儿科,海南海口570311

出　　处：《临床儿科杂志》2015年第8期726-729,共4页Journal of Clinical Pediatrics

摘　　要：目的调查三亚市儿童地中海贫血的发病率和基因突变类型。方法对938例儿童进行血常规、CRP检测和血红蛋白电泳试验,筛查地中海贫血发生情况及其所属类型;对α-地中海贫血患儿用gap-PCR法、β-地中海贫血患儿用PCR-RDB法进行基因诊断。结果地中海贫血筛查阳性率为13.65%(128/938),基因诊断阳性率为11.41%(107/938)。在107例经基因诊断确诊为地中海贫血的患儿中,α-地中海贫血59例,β-地中海贫血46例,α合并β地中海贫血2例。59例α-地中海贫血患儿中,-SEA/αα型31例,-α4.2/αα型13例,Hb H病为6例;46例β-地中海贫血患儿中共检出6个基因位点发生突变,突变频率依次为CD41-42(-CTTT)21例,TATAbox-28(A→G)13例,CDs14/15(+G)5例,IVS-Int 654(C→T)4例,CD17(A→T)2例,27-28(+C)1例。结论三亚市儿童地中海贫血发病率较高,开展遗传咨询、婚前检查及产前诊断等对优生优育十分必要。Objective To investigate the incidence and gene mutation spectrum of childhood thalassemia in Sanya city. Methods There were 938 children in our hospital screened by routine blood test, C-reactive protein test and hemoglobinelectrophoresis. Based on the screening results in children with thalassemia and its subtypes, the alpha thalassaemia children were diagnosed by gap - polymerase chain reaction, while the beta thalassaemia ones were diagnosed by polymerase chain reaction-reverse dot blot, and all the results were retrospectively analyzed. Results Screening positive rate of thalassemia anemia was 13.65% （128/938）, genetic diagnosis positive rate was 11.41% （107/938）. In 107 cases diagnosed with thalassemia by genetic test, 59 were alpha thalassaemia, and 46 were beta thalassaemia, and 2 cases were alpha thalassaemia combined with beta thalassaemia. In 59 cases of alpha thalassaemia, 31 had genotype of- SEA/alpha alpha, 13 cases with genotype alpha 4.2 / alpha alpha, and 6 were of HbH disease. In the 46 cases of beta thalassaemia children, six gene locus mutations were found ： CD41-42 （CTTT） in 21 cases, TATAbox - 28 （A - G） in 13 cases, CDs14/15 （G） in 5 cases, IVS - Int 654 （C - 〉 T） in 4 cases, CD17 （A - 〉 T） in 2 cases, and 27-28 （C） in 1 case. Conclusion High prevalence of thalassemia in children from Sanya city warrants genetic counseling, premarital check-up and prenatal diagnosis.

关 键 词：地中海贫血 筛查 基因诊断 儿童 

分 类 号：R725.5[医药卫生—儿科]