Department of Medical Education, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Ann N Y Acad Sci. 2024 Feb;1532(1):50-62. doi: 10.1111/nyas.15100. Epub 2024 Jan 25.
Health-related quality of life (HRQOL) is a patient-reported outcome that assesses the impact of a disease or illness on different domains of a patient's life. Different general and disease-specific measures can be used to evaluate HRQOL. This article aimed to summarize the evidence for HRQOL among patients with transfusion-dependent (TDT) and non-transfusion-dependent thalassemia (NTDT). We included HRQOL data related to standard therapy with blood transfusions, iron chelation, and/or luspatercept in TDT and NTDT, as well as curative therapies for TDT, including hematopoietic stem cell transplant (HSCT) and gene therapy. Patients with thalassemia had worse HRQOL scores compared to the general population, and chronic pain was seen to increase in frequency and severity over time with age. NTDT patients reported worse physical health and functioning, mental health, general health, and vitality than TDT patients. However, TDT patients reported worse pain, change in health, and social support than NTDT. Most therapies improved overall HRQOL among thalassemia patients. Deferasirox, an oral iron chelator, was associated with more HRQOL benefits compared to deferoxamine, an intravenous iron chelator. Luspatercept showed clinically meaningful improvement in physical functioning among TDT and NTDT. Furthermore, HSCT and gene therapy were associated with better physical, emotional, and mental domains scores.
健康相关生活质量(HRQOL)是一种患者报告的结果,用于评估疾病对患者生活不同领域的影响。可以使用不同的一般和疾病特异性措施来评估 HRQOL。本文旨在总结输血依赖型(TDT)和非输血依赖型地中海贫血(NTDT)患者的 HRQOL 证据。我们纳入了与 TDT 和 NTDT 的输血、铁螯合和/或 luspatercept 标准治疗以及 TDT 的根治性治疗(包括造血干细胞移植(HSCT)和基因治疗)相关的 HRQOL 数据。与普通人群相比,地中海贫血患者的 HRQOL 评分更差,且随着年龄的增长,慢性疼痛的频率和严重程度逐渐增加。NTDT 患者的身体机能、心理健康、一般健康和活力报告比 TDT 患者差。然而,TDT 患者的疼痛、健康变化和社会支持报告比 NTDT 患者差。大多数治疗方法都改善了地中海贫血患者的整体 HRQOL。与静脉铁螯合剂地拉罗司相比,口服铁螯合剂地拉罗司与更多的 HRQOL 获益相关。luspatercept 可显著改善 TDT 和 NTDT 患者的身体机能。此外,HSCT 和基因治疗与更好的身体、情绪和精神领域评分相关。