• Medicina clinica · Aug 2020

    Update of the Spanish registry of haemoglobinopathies in children and adults.

    • Eduardo J Bardón Cancho, Marina García-Morín, Cristina Beléndez, Pablo Velasco, David Benéitez, Anna Ruiz-Llobet, Rubén Berrueco, Bienvenida Argilés, Áurea Cervera, José Antonio Salinas, Cruz Vecilla, Ainhoa Gondra, Griselda Vallés, Thais Murciano, Mar Bermúdez, Elena Cela, and en representación del grupo de trabajo de Eritropatología de la Sociedad Española de Hematología y Oncología Pediátricas (SEHOP).
    • Sección de Hematología y Oncología Pediátricas, Hospital General Universitario Gregorio Marañón, Madrid, España; Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, España.
    • Med Clin (Barc). 2020 Aug 14; 155 (3): 95-103.

    Background And ObjectivePatients with thalassaemia major (TM) and sickle cell disease (SCD) in Spain have been counted since the creation of the Spanish registry of haemoglobinopathies (REHem). The objective of this paper is to update the published data after the increase in cases due to the inclusion of adults and introduction of new-born screening in almost the whole country.Material And MethodsAn observational, descriptive, multicentre and ambispective study that included patients with haemoglobinopathies registered in the REHem, started in January 2014 and followed up annually. The data presented correspond until December 31, 2017.ResultsNine hundred and fifty-nine patients were collected. There were 75 cases of thalassaemia (62 TM), 826 of ECF and 58 of other types of haemoglobinopathies. The main diagnostic reason in the TM cohort was anaemia symptoms (70.6%), with a mean age at diagnosis of .7 years; in the SCD cohort it was neonatal screening (33.1%), with a mean age at diagnosis of 2.7 years; 26 patients with TM (41.9%) and 30 with SCD (3.6%) underwent a transplant. There were 2 deaths (3.2%) with TM and 19 (2.3%) with SCD. Overall survival was 96.7% in the TM and 97.5% in the SCD cases at 15 years.ConclusionsSince the previous publication and after the diffusion of new-born screening, the most frequent diagnostic method, to the majority of autonomous regions, and the inclusion of adult patients to the registry, the REHem has increased by more than 240 cases, reaching a total of 959 records.Copyright © 2019. Published by Elsevier España, S.L.U.

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