ObjectiveTo investigate the incidence and gene mutation spectrum of childhood thalassemia in Sanya city. MethodsThere were 938 children in our hospital screened by routine blood test, C-reactive protein test and hemoglobinelectro-phoresis. Based on the screening results in children with thalassemia and its subtypes, the alpha thalassaemia children were diag-nosed 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.ResultsScreening 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.ConclusionHigh prevalence of thalassemia in children from Sanya city warrants genetic counseling, premarital check-up and prenatal diagnosis.%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，HbH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。
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