Bardón Cancho Eduardo J, García-Morín Marina, Beléndez Cristina, Velasco Pablo, Benéitez David, Ruiz-Llobet Anna, Berrueco Rubén, Argilés Bienvenida, Cervera Áurea, Salinas José Antonio, Vecilla Cruz, Gondra Ainhoa, Vallés Griselda, Murciano Thais, Bermúdez Mar, Cela Elena
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.
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. doi: 10.1016/j.medcli.2019.10.011. Epub 2020 Feb 26.
Patients 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.
An 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.
Nine 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.
Since 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.
自西班牙血红蛋白病登记处（REHem）创建以来，一直在统计西班牙重型地中海贫血（TM）和镰状细胞病（SCD）患者的数量。本文的目的是在因纳入成年人以及几乎在全国范围内引入新生儿筛查导致病例增加后，更新已发表的数据。
一项观察性、描述性、多中心和双向性研究，纳入了2014年1月开始在REHem登记的血红蛋白病患者，并每年进行随访。所呈现的数据截至2017年12月31日。
共收集到959例患者。其中地中海贫血75例（62例为TM），血红蛋白E/β地中海贫血826例，其他类型血红蛋白病58例。TM队列的主要诊断原因是贫血症状（70.6%），诊断时的平均年龄为7.7岁；SCD队列的主要诊断原因是新生儿筛查（33.1%），诊断时的平均年龄为2.7岁；26例TM患者（41.9%）和30例SCD患者（3.6%）接受了移植。TM患者中有2例死亡（3.2%），SCD患者中有19例死亡（2.3%）。15年时，TM患者的总生存率为96.7%，SCD患者为97.5%。
自上次发表以来，在新生儿筛查普及到大多数自治区以及将成年患者纳入登记处之后，REHem增加了240多例病例，记录总数达到959例。
