The prevalence and genetic characterization of 22750 cases of beta-thalassemia in Fujian Province
10.3760/cma.j.issn.1009-9158.2018.12.007
- VernacularTitle:22 750例福建地区β地中海贫血基因检测结果及频率分析
- Author:
Meihuan CHEN
1
;
Lingji CHEN
;
Hailong HUANG
;
Yan WANG
;
Min ZHANG
;
Na LIN
;
Deqin HE
;
Yuan LIN
;
Liangpu XU
Author Information
1. 350001 福州,福建省妇幼保健院,福建医科大学附属医院,福建省产前诊断与出生缺陷重点实验室
- Keywords:
beta-Thalassemia;
Genetic testing;
Genotype;
Gene frequency
- From:
Chinese Journal of Laboratory Medicine
2018;41(12):928-933
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the molecular characterization and prevalence of beta-thalassemia in Fujian Province .Methods RDBwas applied to identify 17 point mutations of beta gene and 3 point mutations of alpha gene .Gap-PCRwas applied to identify 3 deletions of alpha gene , MLPA and DNA sequecing were applied to identify the rare mutational genotype of beta-thalassemia.Results 3515 cases (15.45％)ofβ-thalassemia were confirmed.15 genotypes were found in the studied subjects .βIVS-2-654(C→T)/βN, βCD41-42(-TCTT)/βN, βCD17(A→T)/βN, β-28(A→G)/βN, βCD27-28( +C)/βN, and βCD26(G→A)/βN were the mostcommon genotypes in Fujian Province , accounting for 41.76％, 30.50％, 12.46％, 5.46％, 2.93％and 1.82％respectively , It was found that the total frequency of them was 94.93％in our study.13 cases of deletional β-thalassemia were detected , including 6 cases of Southeast Asia subtype ( SEA-HPFH) , 6 cases of Chinese subtype Gγ(Aγδβ)0 and 1 case of 1.35kb deletion(NG-000007.3:g.69997-71353 del 1357) in one subject .13 cases of rareβ-thalassemia were detected , including Hb J-Bankok in 8 subjects and Hb New York in 5 subjects were diagnosed .Conclusions As a high-risk area forβ-thalassaemia, the detection of deletional β-thalassemia and rare β-thalassaemia subtypes should be screened in addition to the common β-thalassemia genes , so as to demonstrate the results of β-thalassemia gene detection in this region .Those screening results are useful for genetic counseling and can effectively reduce the birth of children with moderate to severe β-thalassaemia .
