Pediatric Oncology/Hematology/BMT Unit, Pediatric Department, Facultad de Medicina, Hospital General Universitario Gregorio Marañón, Universidad Complutense de Madrid, C/ Maiquez, 9, 28007, Madrid, Spain.
Instituto Investigación Sanitaria Gregorio Marañón, Madrid, Spain.
Ann Hematol. 2024 Feb;103(2):373-383. doi: 10.1007/s00277-023-05539-1. Epub 2023 Nov 18.
In May 2003, Madrid established the universal newborn screening (NBS) for sickle cell disease (SCD). However, there are no studies resembling the evolution of a SCD neonate cohort followed according to national guidelines in Spain. The aim of this study is to describe the morbimortality and the stroke prevention programme in patients diagnosed by SCD NBS in Madrid. This is a multicentre, observational, prospective cohort study between 2003 and 2018; 187 patients diagnosed with SCD were included (151 HbSS, 6 HbSβ, 27 HbSC, 3 HbSβ +), and median follow-up was 5.2 years (0.03-14.9). There were 5 deaths: 2 related to SCD in patients with severe genotype (HbSS/HbSβ). Overall survival reached 95% and SCD-related survival 96.8%. The most frequent events were fever without focus, vaso-occlusive crises and acute chest syndromes. Eight strokes occurred in 5 patients which led to a 90.7% stroke-free survival in severe genotype patients (first stroke rate, 0.54 per 100 patient-years). Transcranial Doppler (TCD) was performed in 95% of eligible patients; 75% of children with pathological TCD remained stroke-free. Regarding HbSS/HbSβ patients, 50.1% received hydroxyurea and 9.5% haematopoietic stem cell transplantation. This study reflects the evolution of Madrid SCD cohort and provides morbimortality data similar to other developed countries.
2003 年 5 月，马德里建立了镰状细胞病（SCD）的全民新生儿筛查（NBS）。然而，西班牙还没有研究类似于根据国家指南对 SCD 新生儿队列进行随访的演变。本研究旨在描述马德里通过 SCD NBS 诊断的患者的发病率和死亡率以及卒中预防计划。这是一项 2003 年至 2018 年的多中心、观察性、前瞻性队列研究；共纳入 187 例 SCD 患者（151 例 HbSS、6 例 HbSβ、27 例 HbSC、3 例 HbSβ+），中位随访时间为 5.2 年（0.03-14.9）。共有 5 例死亡：2 例与基因型严重的 SCD 患者（HbSS/HbSβ）相关。总生存率达到 95%，SCD 相关生存率为 96.8%。最常见的事件是无焦点发热、血管阻塞性危象和急性胸部综合征。5 例患者发生 8 例中风，导致严重基因型患者 90.7%无中风生存（首次中风率为 0.54/100 患者年）。95%的合格患者进行了经颅多普勒（TCD）检查；75%的 TCD 异常儿童无中风。对于 HbSS/HbSβ 患者，50.1%接受羟基脲治疗，9.5%接受造血干细胞移植。本研究反映了马德里 SCD 队列的演变，并提供了与其他发达国家相似的发病率和死亡率数据。
