Sickle cell disease is an inherited disease in which patients' red blood cells become stiff and fragile, resulting in severe anemia and occlusion of blood vessels that can lead to complications in multiple organs. As this is considered a rare disease in the European Union, there is little data available, which hinders research to improve patient care. Aiming to address this issue, in 2017 the European Commission created the European Reference Network (ERN) dedicated to minority blood pathologies, ERN-EuroBloodNet, with the scientific leadership node based at Vall d'Hebron. Recently, The Lancet Haematology has published the actions carried out so far by this collaborative network, the projects that are underway and the future objectives to improve the diagnosis and treatment of sickle cell disease.

The publication has been carried out by professionals from 12 ERN-EuroBloodNet member countries, describing the role of the initiative in improving the care and management of people with sickle cell disease through collaboration between experts to share knowledge and best practices. "Thanks to this initiative we strengthen collaborations that already existed and it has allowed us to create new ones with other institutions on a European scale", explains Dr. María del Mar Mañú Pereira, scientific director of the ERN-EuroBloodNet and head of the Rare Anemia Research Laboratory of the Childhood Cancer and Blood Disorders group at the Vall d'Hebron Research Institute (VHIR). "This network allows us to collect the needs of people with rare hematological diseases to optimize their care and boost research to find new treatments", she adds.

Among the objectives of the initiative is the creation of a patient registry describing the natural history of the disease and facilitating the identification of cohorts of patients with rare hematological diseases to promote clinical research. This collection of information is especially relevant in minority diseases, which have few and poorly standardized data. In this sense, ENROL (European Rare Blood Disorders Platform), the central registry of ERN-EuroBloodNet, and RADeep (Rare Anemia Disorders European Epidemiological Platform), coordinated by Dr. María del Mar Mañú Pereira, have been set up. Both platforms connect and improve existing registries in different countries and promote the creation of new registries where needed. The aim is to bring together a sufficient amount of data on patients affected by rare hematological diseases to promote research and carry out comprehensive epidemiological surveillance in the European Union.

Aligned with ENROL, the RADeep project works to map at the European level the diagnostic methods, demographics, survival rate, main clinical characteristics and treatments of patients with rare anemias. The data collected by RADeep are organized into subgroups to analyze disease prevalence and survival, disease progression and acute and chronic complications, the outcome of different diagnostic tests and the effect of treatments.

Although progress has been made in recent years in understanding the biological basis of sickle cell disease, work continues to find markers of disease severity, prognosis and response to treatment to open the door to personalized therapies. In this sense, GenoMed4All and SYNTHEMA initiatives drive research through the collection and analysis of clinical and omics data and through the validation of artificial intelligence techniques for the generation of synthetic and anonymized data in sickle cell disease, led from the research laboratory in minority anemias of VHIR. "In sickle cell disease it is very important to have tools to predict in early life how the disease will evolve later in life. This gives the pediatric hematologist the opportunity to decide early on whether a therapy, such as hematopoietic progenitor transplantation, is the best option for the patient", explains Dr. Mañú Pereira. GenoMed4All and SYNTHEMA open up new perspectives in this respect for patients with sickle cell disease.

In addition to these projects, the publication also highlights the importance of neonatal screening, which is still only available in a few European Union countries, including Spain. The ERN-EuroBloodNet promotes the implementation of recommendations for universal neonatal screening, i.e., that it should be performed in all newborns regardless of their risk of suffering the disease. In this way, the hope is to improve patient follow-up and offer better genetic counseling in case of having offspring.

Finally, collaboration with patient associations is also key to promoting the empowerment of affected individuals and their families. In this regard, in Spain, work has been done to increase the visibility of the disease and raise awareness of the need for psychological therapy and to fight stigmatization in collaboration with ASAFE, the Spanish Sickle Cell Disease Association.