Data Manager de Grupo de trabajo de Eritropatología de la Sociedad Española de Hematología y Oncología Pediátricas (SEHOP), Hospital General Universitario Gregorio Marañón, Calle O'Donnell, 48, Madrid, España.
Sección de Hematología y Oncología Pediátricas. Servicio de Pediatría. Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón. CSUR Eritropatología. ERN-EuroBloodNet. CIBERER, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España.
Ann Hematol. 2024 May;103(5):1525-1539. doi: 10.1007/s00277-024-05694-z. Epub 2024 Mar 23.
The increase in the number of patients with hemoglobinopathies in Europe in recent decades highlights the need for more detailed epidemiological information in Spain. To fulfil this need, the Spanish Society of Pediatric Hematology and Oncology (SEHOP) sponsored the creation of a national registry of hemoglobinopathies known as REHem-AR (Spanish Registry of Hemoglobinopathies and Rare Anemias). Data from the transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) β-thalassemia cohorts are described and analyzed.
We performed an observational, multicenter, and ambispective study, which included patients of any age with TDT and NTDT, registered up to December 31, 2021.
Among the 1741 patients included, 168 cases of thalassemia were identified (103 TDT and 65 NTDT-patients). Survival at 18 years was 93% for TDT and 100% for NTDT. Regarding management, 80 patients with TDT (77.7%) and 23 patients with NTDT (35.4%) started chelation treatment during follow-up, with deferasirox being the most widely used. A total of 76 patients within the TDT cohort presented at least 1 complication (73.8%), the most frequent being hemosiderosis and osteopenia-osteoporosis. Comparison of both cohorts revealed significant differences in the diagnosis of hepatic hemosiderosis (p = 0.00024), although these were not observed in the case of cardiac iron overload (p = 0.27).
Our registry enabled us to describe the management of β thalassemia in Spain and to analyze the morbidity and mortality of the cohorts of patients with TDT and NTDT. Complications related to iron overload in TDT and NTDT account for most of the morbidity and mortality of the disease, which is associated with a considerable social, psychological, and economic impact, although cardiac, osteopathy and endocrinological complications requiring more attention. The convenience and simplicity of online registries make it possible to homogenize variables and periodically update data, thus providing valuable information on these diseases.
近几十年来，欧洲患血红蛋白病患者人数的增加凸显了西班牙需要更详细的流行病学信息。为了满足这一需求，西班牙儿科血液学和肿瘤学会（SEHOP）发起了一项名为 REHem-AR（西班牙血红蛋白病和罕见贫血登记处）的全国血红蛋白病登记处。本文描述并分析了依赖输血（TDT）和非依赖输血（NTDT）β-地中海贫血队列的数据。
我们进行了一项观察性、多中心、前瞻性研究，纳入了任何年龄的 TDT 和 NTDT 患者，登记时间截至 2021 年 12 月 31 日。
在纳入的 1741 例患者中，共发现 168 例地中海贫血患者（103 例 TDT 和 65 例 NTDT 患者）。TDT 的 18 年生存率为 93%，NTDT 为 100%。在治疗管理方面，80 例 TDT 患者（77.7%）和 23 例 NTDT 患者（35.4%）在随访期间开始接受螯合治疗，其中最常用的是地拉罗司。TDT 队列中有 76 例患者至少出现了 1 种并发症（73.8%），最常见的是铁过载相关的血色病和骨质疏松症。对两组患者的比较显示，肝血色病的诊断存在显著差异（p=0.00024），但心脏铁过载的诊断无差异（p=0.27）。
本研究的登记处使我们能够描述西班牙β 地中海贫血的治疗管理，并分析 TDT 和 NTDT 患者队列的发病率和死亡率。TDT 和 NTDT 患者铁过载相关的并发症是导致疾病发病率和死亡率的主要原因，这与相当大的社会、心理和经济影响有关，尽管需要更多关注心脏、骨病和内分泌并发症。在线登记处的便利性和简单性使得统一变量和定期更新数据成为可能，从而提供了有关这些疾病的有价值的信息。
