Scientific report 2025 of the Haemoglobinopathies Working Party (HWP)

The Hemoglobinopathies Working Party (first two years of existence) has carried out several activities over the past year.

Business meetings: Two in-person and seven remote meetings were held in 2025.

Educational activities: Following the 2024 training meeting in Genoa, educational activities continued with the 2025 meeting in Regensburg, which was well attended 111 participants, emphasizing the focus on hemoglobinopathies.

Registry completion project: Despite several bureaucratic challenges, the most important project of our Working Party—improving registry completeness and data quality—has been launched and continues to grow. This was possible thanks to the ongoing support of several EBMT offices and the essential contribution of the Paris office. A new strategy was developed last year and implemented over the past year. At every meeting (in-person and virtual), we encouraged centres to complete data registration. Data collection is expected to be completed within a couple of years. As repeatedly emphasized, our registry contains an impressive amount of data on transfusion-dependent thalassemia and sickle cell disease. These two inherited diseases show considerable uniformity in their clinical course and therefore represent an extraordinary body of data capable of significantly improving the quality of information and, consequently, patient care. This project is clearly the most important initiative of our Working Party.

Scientific reports and research projects: Even at this stage, sufficient data were available for a highly successful presentation at ASH by Josu de la Fuente on the need for a second transplant in patients with hemoglobinopathies.

Several presentations on transplant outcomes have also been delivered at local conferences.

The six ongoing clinical research projects remain active, pending the aforementioned data implementation program. Furthermore, a collaborative project with Yale University entitled “External Validation of a Machine Learning-Based Clinical Decision Support Tool for Hematopoietic Cell Transplantation for Sickle Cell Anaemia” has been approved. This project may provide important support for future medical decision-making in sickle cell anaemia.

We actively participated in the EBMT harmonization program held in Berlin at the end of September. Harmonization projects are currently underway regarding conditioning regimens for transfusion-dependent thalassemia and sickle cell disease. The thalassemia project is very close to completion and is expected to be published before the end of the year.

The joint effort between EHA and EBMT entitled “Update of the Decision-Making Algorithm on Selecting Transfusion-Dependent Beta-Thalassemic Patients for Gene Therapy Approaches: Joint Consensus Report on Behalf of the EHA Specialized Working Group and the EBMT Hemoglobinopathies Working Party” is currently undergoing revision and will hopefully be published soon. A presentation is scheduled for the EHA meeting next June in Stockholm.

The last, but certainly one of the most important, projects is the establishment of a subcommittee on hematopoietic cell transplantation in low-income countries. This subgroup is particularly significant, as the majority of patients currently live in these regions. The subcommittee is coordinated by Miguel Abboud from Beirut and has already held two meetings, with additional meetings planned, as well as a dedicated training session scheduled for 2027.