Meloni Antonella, Ricchi Paolo, Pistoia Laura, Longo Filomena, Cecinati Valerio, Borsellino Zelia, Sorrentino Francesco, Corigliano Elisabetta, Zerbini Michela, Fina Priscilla, Riva Ada, Peritore Giuseppe, Positano Vincenzo, Clemente Alberto
Bioengineering Unit, Fondazione G. Monasterio CNR-Regione Toscana, 56124 Pisa, Italy.
Unità Operativa Semplice Dipartimentale Malattie Rare del Globulo Rosso, Azienda Ospedaliera di Rilievo Nazionale "A. Cardarelli", 80131 Napoli, Italy.
J Clin Med. 2025 Sep 19;14(18):6602. doi: 10.3390/jcm14186602.
This multicenter cross-sectional study aimed to assess the prevalence of vascular, hepatic, cardiac, endocrine, and bone complications and to identify factors associated with their occurrence in adult patients with neo-transfusion-dependent thalassemia (neo-TDT). A total of 140 adult neo-TDT patients (defined as receiving >4 transfusions/year; mean age 44.3 ± 12.1 years; 56.4% female) were retrospectively enrolled from the Extension-Myocardial Iron Overload in Thalassemia (E-MIOT) network. Iron overload (IO) was assessed by magnetic resonance imaging and complications were classified according to established clinical criteria. Logistic regression analyses were performed to investigate associations of complications with age, sex, splenectomy status, chelation therapy, hemoglobin < 9 g/dL, ferritin ≥ 1000 ng/mL, and hepatic, pancreatic, and cardiac IO. Complications affecting fewer than 5% of patients-including leg ulcers, cirrhosis, thrombosis, heart failure, and hypoparathyroidism-were excluded from statistical analysis. Bone metabolism disorders were the most prevalent complications (68.6%), followed by impaired glucose metabolism (15.7%). The prevalence of other complications was: extramedullary hematopoiesis (EMH) 19.3%, pulmonary hypertension (PH) 7.1%, arrhythmias 12.1%, hypogonadism 11.4%, and hypothyroidism 15.0%. Male sex was independently associated with EMH (odds-ratio [OR] = 2.67; = 0.027). Hepatic IO was the only significant predictor of PH (OR = 4.12; = 0.047). Arrhythmias were strongly associated with older age (OR = 22.67; < 0.0001), while both older age (OR = 4.42; = 0.004) and pancreatic IO (OR = 7.40; = 0.012) were independently associated with impaired glucose metabolism. No significant associations were identified for hypogonadism, hypothyroidism, or bone metabolism disorders. This study offers updated insights into the burden of complications in neo-TDT patients and highlights specific risk factors that may inform comprehensive, multidisciplinary surveillance strategies.
这项多中心横断面研究旨在评估新输血依赖型地中海贫血（neo-TDT）成年患者血管、肝脏、心脏、内分泌和骨骼并发症的患病率，并确定与其发生相关的因素。总共从地中海贫血心肌铁过载扩展研究（E-MIOT）网络中回顾性纳入了140例成年neo-TDT患者（定义为每年接受超过4次输血；平均年龄44.3±12.1岁；56.4%为女性）。通过磁共振成像评估铁过载（IO），并根据既定的临床标准对并发症进行分类。进行逻辑回归分析以研究并发症与年龄、性别、脾切除状态、螯合疗法、血红蛋白<9 g/dL、铁蛋白≥1000 ng/mL以及肝脏、胰腺和心脏IO之间的关联。影响不到5%患者的并发症——包括腿部溃疡、肝硬化、血栓形成、心力衰竭和甲状旁腺功能减退——被排除在统计分析之外。骨代谢紊乱是最常见的并发症（68.6%），其次是糖代谢受损（15.7%）。其他并发症的患病率为：髓外造血（EMH）19.3%、肺动脉高压（PH）7.1%、心律失常12. (1)%,性腺功能减退11.4%，甲状腺功能减退15.0%。男性与EMH独立相关（优势比[OR]=2.67；P=0.027）。肝脏IO是PH的唯一显著预测因素（OR=4.12；P=0.047）。心律失常与年龄较大密切相关（OR=22.67；P<0.0001），而年龄较大（OR=4.42；P=0.004）和胰腺IO（OR=7.40；P=0.012）均与糖代谢受损独立相关。未发现性腺功能减退、甲状腺功能减退或骨代谢紊乱有显著关联。这项研究为neo-TDT患者并发症的负担提供了最新见解，并突出了可能为全面、多学科监测策略提供参考的特定风险因素。
