Current and Future Therapies for β-Thalassaemia: A Review Article

Abstract

This article will review recent and forthcoming advances in the treatment of thalassaemia. Prognosis of thalassaemia has dramatically improved in the last 50 years with the development of regular and safe blood transfusions and iron chelation. Almost 20 years ago, development of oral chelators, and more recently the improvement in the knowledge and understanding of iron pathophysiology, have led to optimal iron toxicity prevention and treatment. These considerable advancements in medical therapy have transformed transfusion-dependent thalassaemia from a lethal childhood disease to a chronic disease with an open prognosis, even in those individuals over 50 years of age, and with the disease being, in some instances, curable. In the 1980s, the introduction of allogeneic haematopoietic cell transplantation provided the possibility of curing the congenital disease for the first time. More recent developments include an improved understanding of erythropoiesis, which led to the development of new erythroid-stimulating factors effective in thalassaemia, an expansion of donor pull for transplantation, and the approach of the long-term promised gene therapy in clinical practice. Moreover, ongoing trials of gene editing and agents modulating iron metabolism promise new improvements. Today, patients with thalassaemia have several weapons in their therapeutic arsenal and, hopefully, will have much more to come. As usual in medical practice, new advancements provide new challenges for the medical community, and it is the duty of this community to clearly understand the benefits and challenges of any new approach in order to provide the highest clinical benefit to patients.