Research Progress in the Prevention and Treatment of Thalassemia

Thalassemia is an inherited hemolytic disorder caused by defects in globin genes. Its pathogenesis involves an imbalance in the synthesis of - and -globin chains, leading to chronic hemolysis and multisystem complications. This review systematically summarizes the latest global advances in thalassemia prevention and treatment. In prevention, a tertiary prevention system has been established by integrating third-generation sequencing (with a missed diagnosis rate below 0.5%), preimplantation genetic diagnosis/screening (PGD/PGS, reducing the birth rate of moderate-to-severe thalassemia by 90%), and regional screening networks (e.g., a 70% decrease in the birth rate of severe thalassemia in Guangxi, China). In treatment, conventional blood transfusion combined with iron chelation therapy (yielding a 10-year survival rate exceeding 85%) continues to be optimized, while breakthroughs in curative treatment are emerging with gene editing therapiessuch as Zynteglo, which achieves a 5-year transfusion independence rate of 87%and CRISPR-Cas9 technology (with off-target effects below 0.1%). Concurrently, research has highlighted key challenges, including the prohibitive cost of gene therapy and the lack of insurance coverage, which leads to an imbalance in healthcare resource allocation. Collaborative models among government, medical institutions, and enterprisesexemplified by Berry Genomics clinical translational project that reduced diagnostic and treatment costs by 25%and innovative payment systems are critical to overcoming these challenges. This paper proposes an integrated strategy of precision preventiontargeted treatmentpolicy support, thereby providing a theoretical framework for global thalassemia control. Recent advances in biotechnology have notably propelled progress in both prevention and treatment.