Emerging Therapies for Sickle Cell Disease: From Symptom Management to Curative Gene Therapy

镰状细胞病的新兴疗法:从症状管理到治愈性基因疗法

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Abstract

Sickle cell disease (SCD) is a hereditary hemoglobinopathy caused by a point mutation in the β-globin gene, leading to the production of hemoglobin S and resulting in chronic hemolytic anemia, vaso-occlusion, and progressive organ damage. Affecting millions globally, with the highest prevalence in sub-Saharan Africa and other low-resource settings, SCD remains a major public health challenge. Current therapies, including hydroxyurea, L-glutamine, crizanlizumab, and transfusions, primarily offer symptomatic relief but do not correct the underlying genetic defect. Hematopoietic stem cell transplantation remains the only established cure but is limited by donor availability and associated risks. Recent advances in gene therapy have transformed the therapeutic landscape of SCD, offering curative potential through techniques such as lentiviral vector-mediated gene addition and CRISPR/Cas9 gene editing. These approaches aim to restore normal hemoglobin production or reactivate fetal hemoglobin expression. While clinical trial outcomes are encouraging, with reduced vaso-occlusive crises and transfusion independence, major challenges remain, including high costs, need for myeloablative conditioning, and limited access in high-burden regions. This review explores the evolution of SCD treatment, evaluates the promise and limitations of emerging gene therapies, and highlights the urgent need for equitable access to these transformative technologies.

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