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Haemoglobinopathies and Other Rare Anemias in Spain: Ten Years of a Nationwide Registry (Rehem-ar)

Authors: Marco Sánchez, José Manuel; Bardón Cancho, Eduardo Jesús; Benéitez, David; Payán-Pernía, Salvador; Collado Gimbert, Anna; Ruiz-Llobet, Anna; Salinas Sanz, Jose Antonio; +22 Authors

Haemoglobinopathies and Other Rare Anemias in Spain: Ten Years of a Nationwide Registry (Rehem-ar)

Abstract

Abstract 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.

Keywords

Male, España, Hemoglobinopatia - Diagnòstic, Preescolar, Recién Nacido, Otros calificadores::Otros calificadores::/diagnóstico, Cribatge (Medicina), Infants nadons, Registries, Masculino, Child, Adolescente, Persona de Mediana Edad, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening, Adulto, Femenino, Adulto Joven, Middle Aged, Talasemia, Humanos, Registres mèdics, Nationwide registry, Niño, Child, Preschool, Thalassemia, Rare anaemias, Female, Adult, Enfermedades Raras, Adolescent, Tamizaje Neonatal, Estudios Transversales, DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Hemoglobinopathies, Sistema de Registros, Other subheadings::Other subheadings::/diagnosis, Young Adult, Rare Diseases, Neonatal Screening, Humans, Hemoglobinopatías, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal, Research, Infant, Newborn, Infant, Lactante, Hemoglobinopathies, Cross-Sectional Studies, ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::hemoglobinopatías, Spain, Estudios de Seguimiento, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros, Follow-Up Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Top 10%
Average
Average
Green
hybrid