Gene therapy in hemophilia: the dawn of a new era

Abstract

Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures. In such scenarios, it remains imperative to administer replacement or bypassing drugs, especially when inhibitors are present. Within this context, gene therapy emerges as a compelling alternative, ensuring sustained expression of the deficient factor at levels often surpassing current recommendations. Some studies report an effect lasting up to 8 years, contributing significantly to clinical improvement and enhancing the quality of life for patients. However, a comprehensive evaluation of this innovative therapy is essential, encompassing both its benefits and potential risks. It is crucial to undertake a multidisciplinary assessment, engage in thoughtful discussions with the patient, and closely monitor the therapy's effects and any eventual side effects of therapy. This approach aims to facilitate an informed and collaborative decision-making process, ultimately maximizing the benefits for each individual patient.

Keywords: disease management; gene therapy; hemophilia; liver; multidisciplinary care team.