Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China.

IF 2.6 4区医学 Q2 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Journal of Medical Screening Pub Date : 2024-03-01 Epub Date: 2023-07-12 DOI:10.1177/09691413231188069

Yajun Chen, Rui Zhong, Xueqin Guo, Shiping Chen, Yan Wang, Jiufeng Li, Lichan Huang, Yi Li, Xiaoling Wang, Liting Wu, Mubao Huang, Xiaoyan Huang, Junbin Fang, Zhongjie Chu, Jun Sun, Zhiyu Peng, Yan Sun

{"title":"Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China.","authors":"Yajun Chen, Rui Zhong, Xueqin Guo, Shiping Chen, Yan Wang, Jiufeng Li, Lichan Huang, Yi Li, Xiaoling Wang, Liting Wu, Mubao Huang, Xiaoyan Huang, Junbin Fang, Zhongjie Chu, Jun Sun, Zhiyu Peng, Yan Sun","doi":"10.1177/09691413231188069","DOIUrl":null,"url":null,"abstract":"Objectives: As one of the most common hereditary diseases, thalassemia affects a large number of people in China. The aim of this study was to investigate the feasibility of a method based on next-generation sequencing (NGS) for screening of thalassemia carriers among high school students in the Shaoguan area.Materials and methods: The NGS-based method was performed using 25,910 high school students recruited from 38 schools. The screening yield was systematically analyzed. Before screening, a lecture on how the disease is inherited, the symptoms of thalassemia, and how to prevent it was given to 28,780 students.Results: Implying successful delivery of information on the disease, 90.03% (25,910 of 28,780) of the students agreed to join this program for thalassemia screening. A thalassemia carrier rate of 15.99% (4144 of 25,910) was found. Also, 69 rare genotypes (28 of α-thalassemia and 41 of β-thalassemia) and 9 novel variants were identified.Conclusions: This NGS-based method provided a feasible platform for high school population thalassemia screening. Combined with a clinical follow-up strategy, it could help eventually to prevent the births of affected children.","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"53-57"},"PeriodicalIF":2.6000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Screening","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/09691413231188069","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/12 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}

引用次数: 0

Abstract

Objectives: As one of the most common hereditary diseases, thalassemia affects a large number of people in China. The aim of this study was to investigate the feasibility of a method based on next-generation sequencing (NGS) for screening of thalassemia carriers among high school students in the Shaoguan area.

Materials and methods: The NGS-based method was performed using 25,910 high school students recruited from 38 schools. The screening yield was systematically analyzed. Before screening, a lecture on how the disease is inherited, the symptoms of thalassemia, and how to prevent it was given to 28,780 students.

Results: Implying successful delivery of information on the disease, 90.03% (25,910 of 28,780) of the students agreed to join this program for thalassemia screening. A thalassemia carrier rate of 15.99% (4144 of 25,910) was found. Also, 69 rare genotypes (28 of α-thalassemia and 41 of β-thalassemia) and 9 novel variants were identified.

Conclusions: This NGS-based method provided a feasible platform for high school population thalassemia screening. Combined with a clinical follow-up strategy, it could help eventually to prevent the births of affected children.

查看原文本刊更多论文

中国韶关地区 25,910 名高中生的地中海贫血携带率。

目的：作为最常见的遗传性疾病之一，地中海贫血在中国影响着大量人群。本研究旨在探讨基于新一代测序（NGS）的方法在韶关地区高中生中筛查地中海贫血携带者的可行性：从 38 所学校招募了 25910 名高中生，采用基于 NGS 的方法进行筛查。对筛查结果进行了系统分析。筛查前，向 28780 名学生讲解了地中海贫血的遗传方式、症状和预防方法：结果：由于成功传达了有关该疾病的信息，90.03% 的学生（28780 人中的 25910 人）同意参加地中海贫血筛查计划。地中海贫血携带者比例为 15.99%（25910 人中有 4144 人）。此外，还发现了 69 个罕见基因型（28 个 α 型地中海贫血基因型和 41 个 β 型地中海贫血基因型）和 9 个新型变异基因：结论：这种基于 NGS 的方法为高中人群地中海贫血筛查提供了一个可行的平台。结论：这种基于 NGS 的方法为高中人群地中海贫血筛查提供了一个可行的平台，结合临床随访策略，最终可帮助预防患儿的出生。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Medical Screening 医学-公共卫生、环境卫生与职业卫生

CiteScore

4.90

自引率

3.40%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Medical Screening, a fully peer reviewed journal, is concerned with all aspects of medical screening, particularly the publication of research that advances screening theory and practice. The journal aims to increase awareness of the principles of screening (quantitative and statistical aspects), screening techniques and procedures and methodologies from all specialties. An essential subscription for physicians, clinicians and academics with an interest in screening, epidemiology and public health.