Screening and genetic diagnosis of childhood thalassemia in Sanya city

Aihua Chen; Chuihai Chen; Qiuzhu Chen; Xiangmin Zhou; Chuiwan Chen; Chuiren Chen; Kaiming Huo

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Screening and genetic diagnosis of childhood thalassemia in Sanya city

VernacularTitle:三亚市儿童地中海贫血筛查及基因分析
Author: Aihua CHEN ; Chuihai CHEN ; Qiuzhu CHEN ; Xiangmin ZHOU ; Chuiwan CHEN ; Chuiren CHEN ; Kaiming HUO
Publication Type:Journal Article
Keywords: thalassemia; screening; genetic diagnosis; child
From: Journal of Clinical Pediatrics 2015;(8):726-729
CountryChina
Language:Chinese
Abstract: 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.