Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention management of this disease. Third-generation sequencing (TGS), breakthrough technology, has shown great potential diagnostic applications in various diseases, while its application thalassemia detection still infancy. This review aims to understand latest most widespread uses, advantages TGS technologies, as well challenges solutions associated with their incorporation into routine diagnosis thalassemia. Overall, exhibited higher rates positive accuracy compared conventional methods next-generation indicating that will be feasible option clinical laboratories conducting in-house testing. The implementation technology facilitate development effective strategies, thereby reducing burden disease on individuals society.