Du Yepei, Zhou Cong, Wang Jing, Yang Yanting, Liu Hui
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Front Genet. 2024 Apr 10;15:1356068. doi: 10.3389/fgene.2024.1356068. eCollection 2024.
Thalassemia is a severe hereditary blood disorder that poses a significant threat to human health and leads to mortality and disability. It is one of the most prevalent monogenic diseases worldwide. The aim of this study was to analyze the molecular epidemiological data of individuals of childbearing age from the Han ethnic group with thalassemia in Southwest China and to explore the application of next-generation sequencing (NGS) technology in screening thalassemia carriers.
The participants were Han males and females of childbearing age who sought medical advice at the West China Second University Hospital, Sichuan University from June 2022 to June 2023. We detected α- and β-thalassemia mutations using full-length capture of the thalassemia genes and NGS technology.
In a cohort of 1,093 participants, 130 thalassemia carriers were identified, with an overall detection rate of 11.89% (130/1,093). Among these, 0.91% (10/1,093) had mutations that could not be detected using traditional PCR techniques. The proportions of carriers with α-, β-, and α-complexed β-thalassemia gene mutations were 7.68% (84/1,093), 3.93% (43/1,093), and 0.27% (3/1,093), respectively. We identified a novel HBA2 c.166del variant that has not been previously reported.
Using NGS technology, we found that the mutation-carrying rate of thalassemia genes was 11.89% in the Han population of childbearing age in Southwest China. Compared with the results of traditional PCR techniques, NGS detected an additional 0.91% (10/1,093) rare genetic variants. NGS technology should be utilized as the primary screening method for thalassemia carriers among Han nationality people of childbearing age in Southwest China.
地中海贫血是一种严重的遗传性血液疾病，对人类健康构成重大威胁，可导致死亡和残疾。它是全球最常见的单基因疾病之一。本研究的目的是分析中国西南地区汉族育龄人群地中海贫血的分子流行病学数据，并探索下一代测序（NGS）技术在筛查地中海贫血携带者中的应用。
研究对象为2022年6月至2023年6月在四川大学华西第二医院就诊的汉族育龄男性和女性。我们采用地中海贫血基因全长捕获和NGS技术检测α和β地中海贫血突变。
在1093名参与者中，共鉴定出130名地中海贫血携带者，总体检出率为11.89%（130/1093）。其中，0.91%（10/1093）的突变无法用传统PCR技术检测到。携带α、β和α复合β地中海贫血基因突变的携带者比例分别为7.68%（84/1093）、3.93%（43/1093）和0.27%（3/1093）。我们鉴定出一种此前未报道的新型HBA2 c.166del变异。
使用NGS技术，我们发现中国西南地区汉族育龄人群中地中海贫血基因突变携带率为11.89%。与传统PCR技术的结果相比，NGS检测到另外0.91%（10/1093）的罕见基因变异。NGS技术应作为中国西南地区汉族育龄人群地中海贫血携带者的主要筛查方法。
