Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

BACKGROUND: Thalassemia is a common hereditary blood disorder characterized by impaired globin synthesis, leading to anemia and a variety of related complications. With the rapid advances in genomics and molecular biology, remarkable progress has been made in this field in recent years, especially in the in-depth exploration of genetic mechanisms, the innovation of diagnostic techniques and the continuous update of therapeutic strategies. It is worth noting that with the emergence of new treatment strategies such as gene therapy and stem cell transplantation, offer new hope for patients. Despite significant progress, further research is needed to address the limitations of existing treatment methods and optimize long-term management for patients. METHODS: This review introduces the epidemiology, pathogenic mechanisms, and related complications of thalassemia. RESULTS: It also highlights innovations in the diagnosis of thalassemia (such as TGS and Genomics technologies) and treatment advancements (such as CRISPR/Cas9, HSCT, and Luspatercept) and their limitations, and explores why transformative tools have not been fully utilized in regions with high prevalence of thalassemia. CONCLUSIONS: Unlike existing reviews that focus solely on either diagnostic or therapeutic aspects, this article integrates both perspectives with an emphasis on clinical accessibility. It aims to provide sustainable and equitable management guidance for clinicians, researchers, and policymakers involved in thalassemia care.