2026-04-18T06:03:38Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/118462025-10-24T10:34:18Zcom_2072_451665com_2072_378040com_2072_378070col_2072_451666col_2072_378092

00925njm 22002777a 4500 dc Marco Sanchez, Jose Manuel author Bardón Cancho Eduardo Jesús author Beneitez Pastor, David author PAYÁN PERNÍA, SALVADOR author Collado Gimbert, Anna author Coll, Maite author Ruiz-Llobet, Anna author Mañú Pereira, María del Mar author 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. http://hdl.handle.net/11351/11846 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 Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR)