Sistema de Salut de Catalunya
Institut Català de la Salut
[Marco Sánchez JM] Data Manager of the Spanish Registry of Rare Haemoglobinopathies and Rare Anaemias (REHem-AR), Gregorio Marañón Health Research Institute, Section of Pediatric Hemato-Oncology, Pediatrics Service, Hospital General Universitario Gregorio Marañón, Madrid, Spain. CSUR Erithropathology, ERN-EuroBloodNet. CIBERER, Universidad Complutense de Madrid, Madrid, Spain. [Bardón Cancho EJ] CSUR Erithropathology, ERN-EuroBloodNet. CIBERER, Universidad Complutense de Madrid, Madrid, Spain. Section of Pediatric Hemato-Oncology. Pediatrics Service, Hospital General, Universitario Gregorio Marañón, Madrid, Spain. [Benéitez D] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. ERN-Eurobloodnet, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Payán Pernía S] Hematology Service, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBiS), Seville, Spain. [Collado Gimbert A] Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Ruiz Llobet A] Hematology Service, Hospital Sant Joan de Déu, Universitat de Barcelona, Institut de Recerca Hospital Sant Joan de Déu, CSUR Eritropatología, ERN-EuroBloodNet, Barcelona, Spain. [Coll MT] Section of Pediatric Hemato-Oncology. Pediatrics Service, Hospital General de Granollers, Granollers, Spain. [del Mañú Pereira MM] Vall d’Hebron Hospital Universitari, Barcelona, Spain. ERN-Euro bloodnet, Universitat Autònoma de Bellaterra, Bellaterra, Spain
Vall d'Hebron Barcelona Hospital Campus
2024-08-20T08:38:49Z
2024-08-20T08:38:49Z
2024-05-20
Hemoglobinopathies; Nationwide registry; Rare anaemias
Hemoglobinopatías; Registro nacional; Anemias raras
Hemoglobinopaties; Registre nacional; Anèmies rares
REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments.
Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. JM.M.S employment contract has been partially funded by a research grant from Novartis.
Article
Published version
English
Hemoglobinopatia - Diagnòstic; Registres mèdics; Cribatge (Medicina); Infants nadons; DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Hemoglobinopathies; Other subheadings::Other subheadings::/diagnosis; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries; ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::hemoglobinopatías; Otros calificadores::Otros calificadores::/diagnóstico; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
Springer
Annals of Hematology;103
https://doi.org/10.1007/s00277-024-05788-8
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HG [171]
Articles científics - HVH [3437]
