Gene therapy for beta-thalassemia: advances, challenges, and clinical perspectives

Abstract

Objective: To analyze the advances, challenges, and clinical perspectives of gene therapy for beta-thalassemia, highlighting the main therapeutic strategies and the available scientific evidence. Literature review: Beta-thalassemia is a hereditary hemoglobinopathy caused by mutations in the β-globin gene, leading to significant morbidity and dependence on regular blood transfusions and iron chelation therapy. Although these approaches have improved patient survival, they do not correct the underlying genetic defect and are associated with several complications. In this context, gene therapy has emerged as a promising therapeutic alternative, particularly through the use of lentiviral vectors and CRISPR-Cas9 technology, which can restore functional hemoglobin production or induce fetal hemoglobin expression. Recent clinical trials have reported encouraging results, including reduced transfusion dependence. However, challenges related to safety, cost, accessibility, and clinical implementation remain. Final considerations: Gene therapy represents one of the most promising therapeutic approaches for beta-thalassemia, with the potential to significantly improve disease prognosis. Nevertheless, further studies are required to establish its long-term efficacy and safety and to expand access to this therapeutic modality.