Cela Elena, Bellón José M, de la Cruz María, Beléndez Cristina, Berrueco Rubén, Ruiz Anna, Elorza Izaskun, Díaz de Heredia Cristina, Cervera Aurea, Vallés Griselda, Salinas J Antonio, Coll M Teresa, Bermúdez Mar, Prudencio Marta, Argilés Bienvenida, Vecilla Cruz
Pediatric Hematology Unit, Hospital General Universitario Gregorio Marañón. Facultad de Medicina. Universidad Complutense de Madrid, Spain.
Hemoglobinopathies Study Group- Sociedad Española de Hematología y Oncología Pediátricas-SEHOP, Spain.
Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26322. Epub 2016 Nov 2.
Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown.
This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death.
Data of the 715 eligible patients were collected: 615 SCD (497 SS, 64 SC, 54 SBeta phenotypes), 73 thalassemia, 9 CC phenotype, and 18 other variants. Most of the SCD patients were born in Spain (65%), and 51% of these were diagnosed at newborn screening. Median age at the first diagnosis was 0.4 years for thalassemia and 1.0 years for SCD. The estimated incidence was 0.002 thalassemia cases and 0.03 SCD cases/1,000 live births. Median age was 8.9 years (0.2-33.7) for thalassemia and 8.1 years (0.2-32.8) for SCD patients. Stroke was registered in 16 SCD cases. Transplantation was performed in 43 TM and 23 SCD patients at a median age of 5.2 and 7.8 years, respectively. Twenty-one patients died (3 TM, 17 SCD, 1 CC) and 200 were lost to follow-up. Causes of death were related to transplantation in three patients with TM and three patients with SCD. Death did not seem to be associated with SCD in six patients, but nine patients died secondary to disease complications. Overall survival was 95% at 15 years of age.
The registry provides data about the prevalence of hemoglobinopathies in Spain and will permit future cohort studies and the possibility of comparison with other registries.
尽管血红蛋白病在全球普遍高发，但西班牙血红蛋白病的准确患病率尚不清楚。
本研究展示了2014年创建的西班牙重型地中海贫血（TM）、中间型地中海贫血（TI）和镰状细胞病（SCD）患者血红蛋白病国家登记数据。五十个中心回顾性报告病例。数据从新生儿筛查或诊断时的首次接触开始记录，直至最后一次随访或死亡。
收集了715例符合条件患者的数据：615例SCD（497例SS、64例SC、54例SBeta表型）、73例地中海贫血、9例CC表型和18例其他变异型。大多数SCD患者出生在西班牙（65%），其中51%在新生儿筛查时被诊断。地中海贫血首次诊断的中位年龄为0.4岁，SCD为1.0岁。估计发病率为每1000例活产中有0.002例地中海贫血病例和0.03例SCD病例。地中海贫血患者的中位年龄为8.9岁（0.2 - 33.7岁），SCD患者为8.1岁（0.2 - 32.8岁）。16例SCD病例记录有中风。43例TM患者和23例SCD患者分别在中位年龄为5.2岁和7.8岁时接受了移植。21例患者死亡（3例TM、17例SCD、1例CC），200例失访。死亡原因与3例TM患者和3例SCD患者的移植相关。6例患者的死亡似乎与SCD无关，但9例患者死于疾病并发症。15岁时的总生存率为95%。
该登记处提供了西班牙血红蛋白病患病率的数据，并将为未来的队列研究以及与其他登记处进行比较提供可能。
