Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Ann N Y Acad Sci. 2016 Mar;1368(1):82-94. doi: 10.1111/nyas.13083.
Patients with non-transfusion-dependent thalassemia (NTDT) experience a wide array of clinical complications despite their independence from frequent, regular red blood cell (RBC) transfusions. According to the current understanding of NTDT, these clinical complications stem from the interaction of multiple pathophysiological factors: ineffective erythropoiesis, iron overload, and hypercoagulability. The state of chronic anemia and hypoxia-resulting from ineffective erythropoiesis and hemolysis-leads to the expansion of the erythroid marrow and extramedullary hematopoiesis. The chronic ineffective erythropoiesis also triggers increased intestinal iron absorption and deposition in the liver and endocrine glands despite the lack of transfusional iron load. Patients with NTDT also have a higher incidence of thromboembolic disease, pulmonary hypertension, and silent cerebral ischemia. The treatment of NTDT relies on occasional or more frequent blood transfusions for certain indications (severe infection, pregnancy, and surgery), iron chelation therapy, splenectomy, and hydroxyurea. Splenectomy is no longer routinely performed in all patients with NTDT in light of its association with increased risk of NTDT-related complications. This review focuses on the clinical morbidities associated with NTDT, summarizes the mainstays of treatment, and sheds light on future therapeutic directions in the field.
非输血依赖型地中海贫血（NTDT）患者尽管无需频繁、定期输注红细胞（RBC），仍会经历广泛的临床并发症。根据目前对 NTDT 的认识，这些临床并发症源自多种病理生理因素的相互作用：无效造血、铁过载和高凝状态。无效造血和溶血导致的慢性贫血和缺氧状态导致红髓扩张和骨髓外造血。尽管没有输血铁负荷，但慢性无效造血也会导致肠道铁吸收增加，并在肝脏和内分泌腺中沉积。NTDT 患者还具有更高的血栓栓塞性疾病、肺动脉高压和无症状性脑缺血的发病率。NTDT 的治疗依赖于偶尔或更频繁的输血（严重感染、妊娠和手术等指征）、铁螯合治疗、脾切除术和羟基脲。鉴于脾切除术与 NTDT 相关并发症风险增加相关，目前不再对所有 NTDT 患者常规进行脾切除术。本文重点关注与 NTDT 相关的临床并发症，总结主要治疗方法，并探讨该领域的未来治疗方向。
