Zhan Lixia, Gui Chunrong, Wei Wei, Liu Juliang, Gui Baoheng
The Second School of Medicine, Guangxi Medical University, Nanning, China.
Child Healthcare Department, The Second People's Hospital of Beihai, Beihai, China.
Front Pediatr. 2023 Jul 6;11:1199609. doi: 10.3389/fped.2023.1199609. eCollection 2023.
Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology, has shown great potential for screening and diagnostic applications in various diseases, while its application in thalassemia detection is still in its infancy. This review aims to understand the latest and most widespread uses, advantages of TGS technologies, as well as the challenges and solutions associated with their incorporation into routine screening and diagnosis of thalassemia. Overall, TGS has exhibited higher rates of positive detection and diagnostic accuracy compared to conventional methods and next-generation sequencing technologies, indicating that TGS will be a feasible option for clinical laboratories conducting in-house thalassemia testing. The implementation of TGS technology in thalassemia diagnosis will facilitate the development of effective prevention and management strategies, thereby reducing the burden of this disease on individuals and society.
地中海贫血是一种遗传性血液疾病，会带来重大的社会和经济负担。全面的筛查策略对于这种疾病的预防和管理至关重要。第三代测序（TGS）作为一项突破性技术，在各种疾病的筛查和诊断应用中显示出巨大潜力，但其在地中海贫血检测中的应用仍处于起步阶段。本综述旨在了解TGS技术的最新和最广泛应用、优势，以及将其纳入地中海贫血常规筛查和诊断所面临的挑战与解决方案。总体而言，与传统方法和下一代测序技术相比，TGS显示出更高的阳性检测率和诊断准确性，这表明TGS将成为临床实验室进行内部地中海贫血检测的可行选择。TGS技术在地中海贫血诊断中的应用将有助于制定有效的预防和管理策略，从而减轻这种疾病对个人和社会的负担。
