■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,并导致死亡和残疾。它是世界上最普遍的单基因疾病之一。本研究旨在分析中国西南地区汉族人群地中海贫血育龄个体的分子流行病学资料,探讨下一代测序(NGS)技术在地中海贫血携带者筛查中的应用。
■参与者是在华西第二大学医院寻求医疗建议的汉族男性和育龄女性,四川大学2022年6月至2023年6月。我们使用地中海贫血基因的全长捕获和NGS技术检测了α-和β-地中海贫血突变。
■在1093名参与者中,确定了130个地中海贫血携带者,总体检出率为11.89%(130/1,093)。其中,0.91%(10/1,093)的突变无法使用传统PCR技术检测到。带有α-的载体的比例,β-,α-复合β-地中海贫血基因突变率7.68%(84/1093),3.93%(43/1,093),和0.27%(3/1,093),分别。我们鉴定了一种以前没有报道过的新型HBA2c.166del变体。
■使用NGS技术,我们发现,在中国西南地区育龄汉族人群中,地中海贫血基因突变携带率为11.89%。与传统PCR技巧的成果比拟,NGS检测到额外的0.91%(10/1,093)罕见遗传变异。NGS技术应作为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。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.