By Emanuele Angelucci, Haemoglobinopathies Working Party Chair
As is widely recognised, thalassaemia stands out as one of the most significant and devastating health challenges globally, contributing to tens of thousands of new cases each year.
Over the past decade, the prognosis of thalassaemia has undergone a remarkable improvement, thanks to the collective efforts of researchers, doctors, and patient associations. This collaborative endeavour has transformed thalassaemia from a once lethal childhood disease into a manageable chronic condition, characterised by a prolonged survival and open prognosis. However, this progress necessitates substantial medical resources.
For over three decades, allogeneic hematopoietic stem cell transplantation has offered a potential cure for patients with transfusion-dependent thalassaemia, albeit with constraints such as donor availability and procedural risks, particularly among adult patients. Recently, the long-envisioned prospect of gene therapy has transitioned from theoretical discussions to tangible reality in clinical trials, presenting itself as a promising option for patients.
In 2023, the EBMT established a dedicated Working Party focusing on haemoglobin disorders, including transfusion-dependent thalassaemia and sickle cell disease. The Haemoglobinopathies Working Party strives to promote the global dissemination of curative treatment modalities, such as transplantation and gene therapy, enhance clinical research endeavours, formulate indication criteria, and improve the standard of care. Currently, six studies are underway, with many more in the pipeline.
The EBMT Haemoglobinopathies Working Party is deeply committed to fostering close collaboration with thalassaemia specialists and patient associations. Recognising that true optimisation of patient care can only be achieved through the amalgamation of efforts, knowledge, and enthusiasm, the Working Party endeavours to identify the most suitable treatment options for each patient, at the right time.
"Empowering Lives, Embracing Progress: Equitable and Accessible Thalassaemia Treatment for All" encapsulates the shared objective of all medical associations engaged in this complex and compelling healthcare domain.
Watch the interview of representatives from the HWP who discuss how treatment has developed over the last 40 years, the current treatment landscape and why they feel hopeful for patients in the future.