Molecular Spectrum ofα-andβ-Thalassemia among Young Individuals of Marriageable Age in Guangdong Province,China  

作　　者：ZHOU Bing Yi& WANG Yong Xia XU Shan Shan GU Heng LI Ming Zhen 

机构地区：[1]NHC Key Laboratory of Male Reproduction and Genetics,Family Planning Research Institute of Guangdong Province,Guangzhou 510060,Guangdong,China

出　　处：《Biomedical and Environmental Sciences》2021年第10期824-829,共6页生物医学与环境科学（英文版）

基　　金：the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033]。

摘　　要：Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong Province,24,788 subjects with suspected thalassemia were genetically tested forα-andβ-thalassemia by GapPCR and reverse dot blot during 2018–2019.For suspected rare thalassemia cases,DNA sequencing was performed to identify rare and unknown thalassemia gene mutations.A total of 14,346 thalassemia carriers were detected,including 7,556 cases ofα-thalassemia with 25 genotypes and 8α-gene mutations identified,5,860 cases ofβ-thalassemia with 18 genotypes and 18β-gene mutations identified,and 930 cases of compoundα/β-thalassemia.Among them,the frequency of--SEA deletion was the highest inα-thalassemia(66.01%),followed by-α3.7(17.98%)and-α.24(8.22%),and the frequency of CD41-42(-TCTT)mutation was the highest inβ-thalassemia(38.38%),followed by IVS-II-654(C>T)(25.67%),-28(A>G)(15.76%),and CD17(10.01%).In addition,5 rare mutations(--THAI and HKαα,CD113,-90,and CD56)were found in the study population.Our results revealed molecular epidemiological background ofα-andβ-thalassemia in Guangdong Province,which can support optimization of thalassemia prevention and control strategies.We demonstrated that thalassemia is heterogeneous with significant geographical differences and population specificity.

关 键 词：GUANGDONG PREVENTION MARRIAGE 

分 类 号：R556.61[医药卫生—血液循环系统疾病]