Shaoguan Maternal and Child Health Hospital, Shaoguan, China.
BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan, China.
J Med Screen. 2024 Mar;31(1):53-57. doi: 10.1177/09691413231188069. Epub 2023 Jul 12.
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.
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.
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.
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.
作为最常见的遗传性疾病之一，地中海贫血症在中国影响了大量人群。本研究旨在探讨基于下一代测序（NGS）的方法筛查韶关地区高中生地中海贫血携带者的可行性。
采用 25910 名来自 38 所学校的高中生，进行基于 NGS 的方法检测。系统分析筛查的产量。在筛查之前，向 28780 名学生讲授了该疾病的遗传方式、地中海贫血的症状以及如何预防该病。
表明成功传递了关于该疾病的信息，90.03%（25910 名中有 25910 名）的学生同意参加这项地中海贫血筛查计划。发现地中海贫血携带者率为 15.99%（25910 名中有 4144 名）。此外，还鉴定出 69 种罕见基因型（28 种α-地中海贫血和 41 种β-地中海贫血）和 9 种新变体。
这种基于 NGS 的方法为高中生人群地中海贫血筛查提供了可行的平台。结合临床随访策略，最终有助于预防患病儿童的出生。
