Haemoglobinopathies in European Liaison of Medicine and Science (HELIOS)

Haemoglobinopathies, including sickle cell disease and thalassaemia syndromes, are the commonest monogenic diseases, with millions of patients and carriers worldwide. Their global spread has increased due to growing population movements, posing a major healthcare and research challenge. In many European countries, figures on the prevalence of haemoglobinopathies are largely underestimated owing to the lack of national registries, poor patient access to diagnosis and treatment and the absence of international synergies.

To fill this gap, this Action will build a network of excellence for integrating, harmonising, and spreading the existing knowledge and for developing innovative services and tools, thus improving knowledge accessibility and healthcare equally across Europe and beyond. HELIOS comprises five working groups that will coordinate existing and emerging haemoglobinopathy-related activities in Europe, ranging from clinical and molecular research to data analysis and bioinformatics, aiming to advance health care systems, contribute to informed policymaking and improve survival and quality of life for existing and future patients.

To achieve this, the Action has brought together a diverse group of professionals from different disciplines (e.g., clinical research, laboratory genetics and molecular diagnosis, computational biology, bioethics, data management) and sectors (e.g., universities, research centres, healthcare centres, biobanks, private sector). The Action will expand among COST countries, International Partner Countries and Near Neighbour Countries, while respecting gender balance and promoting the active participation of young researchers and innovators.