Prevalence and Genetic Analysis of Triplicated α-globin Gene in Ganzhou Region Using High-throughput Sequencing

Overview

Journal Front Genet

Date 2023 Nov 6

PMID 37928241

Authors

Xinxing Xie

Jinhui Gan

Zezhang Liu

Yulian Zhou

Kun Yuan

Zhigang Chen

Shiping Chen

Rui Zhou

Lipei Liu

Xiaoyan Huang

Yan Zhang

Qian Liu

Wenqian Zhang

Jungao Huang

Junkun Chen

Affiliations

Soon will be listed here.

Abstract

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 ααα/αα (43.10%), followed by ααα/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.

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