Introduction: The thalassemias are among the most common inherited monogenic diseases worldwide, characterized by autosomal recessive inherited defects in the production of hemoglobin. Currently available conventional therapies have many challenges and limitations. Advances in understanding the underlying pathophysiology of β-thalassemia enabled clinicians and researchers to move toward the development of novel therapeutic modalities. These can be classified into three categories based on their efforts to address different features of the underlying pathophysiology of β-thalassemia: correction of the globin chain imbalance, addressing ineffective erythropoiesis, and improving iron overload.
Areas covered: In this review, we will provide an overview of the novel therapeutic approaches that are currently in development for β-thalassemia.
Expert opinion: A thorough understanding of the pathophysiology and overall disease burden of β-thalassemia has aided clinicians and scientists to optimize disease management approaches and construct a plan for the development of novel therapies, with ultimate goals of prolonging longevity, reducing symptom burden, improving compliance and adherence for a better quality of life.
Keywords: JAK2; Thalassemia; gene therapy; genome editing; hepcidin; ineffective erythropoiesis; iron overload; luspatercept; novel therapies; sotatercept.