Haemoglobinopathies are a group of diseases that can be inherited (passed down through families) and lead to abnormal production of the haemoglobin molecule. Haemoglobin is the oxygen-carrying protein in our bodies found in red blood cells. Hemoglobinopathies are the commonest monogenic diseases (diseases caused by a single gene), with millions of patients and carriers worldwide.

Haemoglobinopathies are recognised as a health burden in 71% of 229 countries, which together account for 89% of global births with over 330 000 infants are affected annually. Furthermore, haemoglobinopathies can also lead to severe anaemia which is the result of insufficient oxygen in the body. According to WHO, anaemia affects 40% of all children between 6-59 months old globally, 37% of pregnant women, and 30% of women between 15-49 years old.

Two of the most common haemoglobinopathy diseases are thalassemia and sickle cell disease (also known as sickle cell anaemia). Thalassemia is caused by faulty genes which result in reduced haemoglobin while sickle cell syndrome results in irregularly shaped red blood cells which don’t survive for long and can block blood vessels.

Haemoglobinopathies 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:

1. 1. National registries
   2. Poor patient access to diagnosis and treatment
   3. Absence of international synergies.

To fill this gap, HELIOS has established a network of excellence which integrates and harmonizes current practices in hemoglobinopathy clinical and laboratory settings. Moreover, the network endeavours to disseminate existing expertise and facilitate the creation of novel services and resources by fostering fresh collaborations. Ultimately, the network contributes to enhancing accessibility to knowledge and healthcare on a broader scale, encompassing 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:

1. 1. Advance healthcare systems
   2. Contribute to informed policymaking
   3. 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, Partner Countries, Near Neighbour Countries, and International Partners while respecting gender balance and promoting the active participation of young researchers and innovators.