ERN EuroBloodNet

Haematological diseases involve abnormalities of blood and bone marrow cells, lymphoid organs and coagulation factors, and almost all of them are rare. They can be subdivided into six categories: rare red blood cell defects; bone marrow failure; rare coagulation disorders; haemochromatosis and other rare genetic disorders of iron synthesis; myeloid malignancies; and lymphoid malignancies.

Diagnosis of rare haematological diseases (RHDs) requires considerable clinical expertise and access to a broad range of laboratory services and imaging technologies. These tests allow precise disease classification according to WHO criteria using international scoring systems and, where possible, biomarkers.

Given these requirements and the fact that some RHDs are very rare, diagnosis is frequently overlooked or delayed, especially in elderly patients. Treatment is also often difficult due to the specialised infrastructures and teams required and the difficulty accessing specific treatments such as allogenic stem cell transplantation or coagulation factors.

Preventive programmes are in place in some countries for certain conditions, but there is an urgent need for harmonisation in the field of screening.

EuroBloodNet, with the experience gained thanks to the EU-funded European Network for Rare and Congenital Anaemias (ENERCA) and the European Haematology Association (EHA), will seek: to improve access to healthcare for RHD patients; to promote guidelines and best practice; to improve training and knowledge-sharing; to offer clinical advice where national expertise is scarce; and to increase the number of clinical trials in the field.

Contact information

Publications

Filter list publications

TitleAuthorsDateKeywordsIssue name
Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia.Bardón-Cancho EJ, Marco-Sánchez JM, Benéitez-Pastor D, Payán-Pernía S, Llobet AR, Berrueco R, García-Morin M, Beléndez C, Senent L, Acosta MJO, Pleguezuelos IP, Velasco P, Collado A, Moreno-Servet M, Argilés B, de Soto IP, Del Mar Bermúdez M, Salido Fiérrez EJ, Blanco-Álvarez A, Navarro PG, Cela E2024-05-01Anemia, Complications, Hemoglobinopathies, Registry, Spain, ThalassemiaAnnals of hematology
Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group.Corti P, Ferrari GM, Faraguna MC, Capitoli G, Longo F, Corradini E, Casini T, Boscarol G, Pinto VM, Ghilardi R, Russo G, Colombatti R, Mariani R, Piperno A2024-01-01haemochromatosis, hyperferritinaemia, iron chelation, juvenile haemochromatosis, phlebotomyBritish journal of haematology
Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience.Pellegrini M, Chakravorty S, Del Mar Manu Pereira M, Gulbis B, Gilmour-Hamilton C, Hayes S, de Montalembert M, Inusa BPD, Colombatti R, Roy NB2023-11-01International congress, Patient education, Patient therapeutic education, Patients workshop, Public patients involvement in Research, Sickle cell diseaseOrphanet journal of rare diseases
Specialist training in thrombosis and haemostasis across Europe: From aspirations to actions.Dargaud Y, Fontana P, Fenaux P, Hermans C2023-09-01Haemophilia : the official journal of the World Federation of Hemophilia
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P, Galacteros F, Glenthøj A, Gutiérrez Valle V, Kattamis A, Kunz J, Lobitz S, McMahon C, Pellegrini M, Reidel S, Russo G, Santos Freire M, van Beers E, Kountouris P, Gulbis B2023-08-01The Lancet. Haematology
Labile plasma iron and echocardiographic parameters are associated with cardiac events in β-thalassemic patients.Ferrara F, Coppi F, Riva R, Ventura P, Ricci A, Mattioli AV, Talarico M, Garuti C, Bevini M, Rochira V, Buzzetti E, Pietrangelo A, Corradini E2023-05-01anaemia, cardiac complications, iron, labile plasma iron, myocardial hypertrophy, non-transferrin-bound iron, thalassemiaEuropean journal of clinical investigation
Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1.Roka K, Solomou E, Glentis S, Gavra M, Kokkinou E, Rigatou E, Pons R, Kattamis A2023-04-14Pediatric blood & cancer
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.Collado A, Boaro MP, van der Veen S, Idrizovic A, Biemond BJ, Beneitez Pastor D, Ortuño A, Cela E, Ruiz-Llobet A, Bartolucci P, de Montalembert M, Castellani G, Biondi R, Manara R, Sanavia T, Fariselli P, Kountouris P, Kleanthous M, Alvarez F, Zazo S, Colombatti R, van Beers EJ, Mañú-Pereira MDM2023-03-01HemaSphere
Iron Metabolism in the Disorders of Heme Biosynthesis.Ricci A, Di Betto G, Bergamini E, Buzzetti E, Corradini E, Ventura P2022-08-31X-linked sideroblastic anemia, acute hepatic porphyrias, congenital hereditary porphyria, congenital sideroblastic anemias, erythropoiesis, erythropoietic protoporphyria, heme, iron, porphyria, porphyria cutanea tardaMetabolites
Iron in Porphyrias: Friend or Foe?Buzzetti E, Ventura P, Corradini E2022-01-21anemia, heme, hepcidin, iron, porphyriasDiagnostics (Basel, Switzerland)
Reply to: "Ceruloplasmin variants might have different effects in different iron overload disorders".Corradini E, Valenti LV2021-10-01Ceruloplasmin, Gene variants, Hyperferritinemia, Liver iron overload, Non-alcoholic fatty liver diseaseJournal of hepatology
Primary vitreoretinal lymphoma: short review of the literature, results of a European survey and French guidelines of the LOC network for diagnosis, treatment and follow-up.Malaise D, Houillier C, Touitou V, Choquet S, Maloum K, Le Garff-Tavernier M, Davi F, Vincent-Salomon A, Feuvret L, Hoang-Xuan K, Cassoux N, Soussain C2021-09-01Current opinion in oncology
Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD.Corradini E, Buzzetti E, Dongiovanni P, Scarlini S, Caleffi A, Pelusi S, Bernardis I, Ventura P, Rametta R, Tenedini E, Tagliafico E, Fracanzani AL, Fargion S, Pietrangelo A, Valenti LV2021-09-01ceruloplasmin, ferritin, iron, next generation sequencing, non-alcoholic fatty liver diseaseJournal of hepatology
Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia.Rizzuto V, Mencattini A, Álvarez-González B, Di Giuseppe D, Martinelli E, Beneitez-Pastor D, Mañú-Pereira MDM, Lopez-Martinez MJ, Samitier J2021-06-30Scientific reports
Changing patterns of thalassaemia in Italy: a WebThal perspective.Longo F, Corrieri P, Origa R, Barella S, Sanna PMG, Bitti PP, Zuccarelli A, Commendatore FV, Vitucci A, Quarta A, Lisi R, Cappellini MD, Massei F, Forni GL, Piga A2021-05-01Blood transfusion = Trasfusione del sangue
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, Santen GWE, Waisfisz Q, Elting M, Smiers FJW, de Pagter AJ, Kerkhoffs JH, Harteveld CL, Mañú-Pereira MDM2021-01-01dominant beta-thalassemia, next generation sequencing, rare anemia disorders, unstable hemoglobinopathies, whole exome sequencingFrontiers in physiology
Genetic iron overload disorders.Corradini E, Buzzetti E, Pietrangelo A2020-10-01Ferroportin disease, Genetics, Hemochromatosis, Hyperferritinemia, Iron overloadMolecular aspects of medicine
Risk factors for vascular liver diseases: Vascular liver diseases: position papers from the francophone network for vascular liver diseases, the French Association for the Study of the Liver (AFEF), and ERN-rare liver.Soret J, Debray D, Fontbrune FS, Kiladjian JJ, Saadoun D, Latour RP, Valla D, Hernandez-Gea V, Hillaire S, Dutheil D, Plessier A, Bureau C, De Raucourt E2020-09-01Behçet's disease, Thrombosis, Vascular liver diseaseClinics and research in hepatology and gastroenterology
Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?Horgan D, Moss B, Boccia S, Genuardi M, Gajewski M, Capurso G, Fenaux P, Gulbis B, Pellegrini M, Mañú Pereira MDM, Gutiérrez Valle V, Gutiérrez Ibarluzea I, Kent A, Cattaneo I, Jagielska B, Belina I, Tumiene B, Ward A, Papaluca M2020-05-01Access, Biomarkers, Biosimilars, Challenges, Citizens, Data, Diagnostics, Empowerment, European Commission, Incentives, Inequality, Member states, Orphan regulation, Patient, Patients, Personalised healthcare, Rare disease, Regulatory, Reimbursement, Treatment, Ultra-rare disease, Unmet needBiomedicine hub
Management of the aging beta-thalassemia transfusion-dependent population - The Italian experience.Pinto VM, Poggi M, Russo R, Giusti A, Forni GL2019-11-01Anemia, Hemoglobinopathy, Iron chelation, Iron overload, Thalassemia, TransfusionBlood reviews
TitleAuthorsDateKeywordsIssue name
Last update: April 29th, 2024 on 15:31