Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing

Frontiers in Genetics

Genetics

Xiaoyan Huang¹  Shiping Chen¹  Lipei Liu²  Wenqian Zhang³  Yan Zhang³  Kun Yuan³  Zhigang Chen³  Qian Liu³  Zezhang Liu³  Rui Zhou³  Yulian Zhou⁴  Xinxing Xie⁵  Jungao Huang⁵  Jinhui Gan⁵  Junkun Chen⁵ 

[1] BGI Genomics, Shenzhen, China;BGI Genomics, Shenzhen, China;Clin Lab, BGI Genomics, Tianjin, China;BGI Genomics, Shenzhen, China;Clin Lab, BGI Genomics, Wuhan, China;Dayu Maternal and Child Health Hospital, Ganzhou, Jiangxi, China;Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China;

关键词: thalassemia;    α-globin gene triplication;    prevalence;    geographic distribution;    Ganzhou;    molecular diagnosis;   

DOI  :  10.3389/fgene.2023.1267892

 received in 2023-07-27, accepted in 2023-09-26,  发布年份 2023

来源: Frontiers

【 摘 要 】

α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large populations. In this study, we investigated the prevalence and distribution of α-globin gene triplication as well as the phenotypic characteristics of α-globin gene triplication coinherited with heterozygous β-thalassemia in Ganzhou city, southern China. During 2021-2022, a total of 73,967 random individuals who received routine health examinations before marriage were genotyped for globin gene mutations by high-throughput sequencing. Among them, 1,443 were α-globin gene triplication carriers, with a carrier rate of 1.95%. The most prevalent mutation was αααanti3.7/αα (43.10%), followed by αααanti4.2/αα (38.12%). 42 individuals had coinherited α-globin gene triplication and heterozygous β-thalassemia. However, they did not differ from the individuals with heterozygous β-thalassemia and normal α-globin (αα/αα) in terms of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels. In addition, heterogenous clinical phenotypes were found in two individuals with the same genotype. Our study established a database of Ganzhou α-globin gene triplication and provided practical advice for the clinical diagnosis of α-globin gene triplication.

【 授权许可】

Unknown   
Copyright © 2023 Xie, Gan, Liu, Zhou, Yuan, Chen, Chen, Zhou, Liu, Huang, Zhang, Liu, Zhang, Huang and Chen.