Changing the treatment paradigm in beta thalassemia.

Beta-thalassemia is a hereditary disease that affects the synthesis of β-globin, resulting in ineffective erythropoiesis, chronic anemia, and iron overload. Although the traditional treatment approach, which includes hypertransfusion and chelation therapy, has increased patient survival, it does not address the underlying disease mechanisms. Improving erythroid maturation, increasing fetal hemoglobin synthesis, lowering iron burden, and modifying the disease's genetic background are the goals that have resulted in the development of several therapeutic classes and treatment options. Erythroid maturation modifiers have been shown to significantly reduce transfusion requirements in patients with beta-thalassemia, and inducers of fetal hemoglobin and hepcidin agonists show promise in controlling ineffective erythropoiesis and secondary iron overload. Gene therapy using lentiviral vectors or CRISPR/Cas9 genome editing has the potential to provide a significant proportion of patients with long-term transfusion independence. These therapeutic advances could significantly improve the quality of life and long-term survival of patients with beta-thalassemia. However, long-term studies are still needed to establish their safety profiles, refine patient selection criteria, and ensure greater access to these innovative treatments.

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