A Review of Drugs Used in Thalassemia: Current Treatments and Future Perspectives

Thalassemia is a group of inherited blood disorders caused by genetic mutations that affect the synthesis of haemoglobin, leading to chronic homolytic anaemia, ineffective erythropoiesis, and systemic complications . The disease manifests primarily in two forms, alpha and beta thalassemia, with beta-thalassemia major being the most severe, often requiring lifelong management. Historically, the cornerstone of treatment has been regular blood transfusions and iron chelation therapy to manage the resultant iron overload. However, these treatments are supportive rather than curative and come with long-term complications such as organ damage and endocrine dysfunctions. In recent years, there has been significant progress in the pharmacological management of thalassemia, including the development of oral iron chelators, fetal haemoglobin inducers, and erythroid maturation agents like luspatercept. Additionally, hydroxyurea, traditionally used in sickle cell disease, has shown promise in increasing fetal haemoglobin levels in thalassemia patients. Emerging therapeutic strategies focus on correcting the underlying genetic defect through gene therapy and genome editing technologies such as lentiviral vectors and CRISPR/Cas9. This review provides a comprehensive overview of the current drug therapies used in thalassemia, elaborating on their mechanisms of action, clinical efficacy, and limitations. It also explores emerging innovations, including gene therapy and fetal haemoglobin induction, highlighting their potential to transform the treatment landscape from chronic management to curative intent.