College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Department of Pediatrics, King Fahad Hospital of the University, Al-Khobar 31952, Saudi Arabia.
Medicina (Kaunas). 2022 Oct 21;58(10):1496. doi: 10.3390/medicina58101496.
Non-transfusion-dependent thalassemia (NTDT) has been considered less severe than its transfusion-dependent variants. The most common forms of NTDT include β-thalassemia intermedia, hemoglobin E/beta thalassemia, and hemoglobin H disease. Patients with NTDT develop several clinical complications, despite their regular transfusion independence. Ineffective erythropoiesis, iron overload, and hypercoagulability are pathophysiological factors that lead to morbidities in these patients. Therefore, an early and accurate diagnosis of NTDT is essential to ascertaining early interventions. Currently, several conventional management options are available, with guidelines suggested by the Thalassemia International Federation, and novel therapies are being developed in light of the advancement of the understanding of this disease. This review aimed to increase clinicians' awareness of NTDT, from its basic medical definition and genetics to its pathophysiology. Specific complications to NTDT were reviewed, along with the risk factors for its development. The indications of different therapeutic options were outlined, and recent advancements were reviewed.
非输血依赖型地中海贫血（NTDT）的严重程度被认为低于其输血依赖型变异体。NTDT 的最常见形式包括中间型β地中海贫血、血红蛋白 E/β地中海贫血和血红蛋白 H 病。尽管患者定期实现无输血依赖，但仍会出现多种临床并发症。无效造血、铁过载和高凝状态是导致这些患者发病的病理生理因素。因此，早期、准确地诊断 NTDT 对于确定早期干预至关重要。目前，已有多种常规管理方案可供选择，《地中海贫血国际联合会》也提出了相应的指南，并且鉴于对这种疾病认识的不断提高，新型疗法也正在开发中。本篇综述旨在提高临床医生对 NTDT 的认识，涵盖其从基础医学定义和遗传学到病理生理学的各个方面。本文还对 NTDT 的具体并发症及其发病风险因素进行了综述，概述了不同治疗方案的适应证，并对最新进展进行了综述。
