Craven-Smith Leah, McClements Neil, Gomes Diogo, Pointon Victoria
University of Leeds, Leeds, England.
Haemochromatosis UK, Spalding, England.
J Patient Rep Outcomes. 2025 Jul 29;9(1):96. doi: 10.1186/s41687-025-00865-6.
Genetic haemochromatosis (GH) is a long-term genetic condition which results in increased iron absorption into the blood and accumulation of iron into certain organs overtime. Increased absorption and accumulation can be fatal. GH can cause many symptoms including arthritis/joint pain, chronic fatigue, and cognitive difficulties. The aim of this study was to measure quality of life (QoL) in people diagnosed with GH (GH-diagnosed) compared to a healthy sample and identify possible explanations for this.
QoL was measured in 535 healthy people and 1039 GH-diagnosed, through completion of the World Health Organisation Quality of Life-100 survey (WHOQOL-100). 985 GH-diagnosed respondents completed a GH-focussed survey, which was developed to get further details of the impact of GH.
Comparison of the WHOQOL-100 overall QoL score between GH-diagnosed and the healthy sample found a significantly lower score in the GH-diagnosed. Physical, psychological, level of independence, and spiritual domains were significantly lower in the GH-diagnosed group. The GH-focussed survey found a high incidence of physical and mental symptoms, and some impact on social and work life. Areas in which participants suggest would improve their QoL included: improved healthcare especially with increased understanding of GH in medical professionals, increased access to appointments, in-person appointments, regular checks for organ damage, more nutrition or dietary advice, and local support groups.
Based on the WHOQOL-100 scores and GH-focussed survey, overall QoL is worse in people diagnosed with GH due to worse physical and psychological symptoms. Improved healthcare may aid in reducing the difference in QoL.
遗传性血色素沉着症（GH）是一种长期的遗传疾病，会导致血液中铁吸收增加，并随着时间的推移铁在某些器官中蓄积。吸收和蓄积增加可能是致命的。GH可引起多种症状，包括关节炎/关节疼痛、慢性疲劳和认知困难。本研究的目的是测量与健康样本相比，被诊断为GH（GH确诊）的人群的生活质量（QoL），并找出对此的可能解释。
通过完成世界卫生组织生活质量-100调查（WHOQOL-100），对535名健康人和1039名GH确诊者进行了生活质量测量。985名GH确诊的受访者完成了一项针对GH的调查，该调查旨在获取有关GH影响的更多详细信息。
比较GH确诊者和健康样本的WHOQOL-100总体生活质量得分，发现GH确诊者的得分显著更低。GH确诊组在身体、心理、独立水平和精神领域的得分显著更低。针对GH的调查发现身心症状发生率很高，并且对社交和工作生活有一些影响。参与者认为可以改善其生活质量的方面包括：改善医疗保健，特别是提高医疗专业人员对GH的了解，增加预约机会、面对面预约、定期检查器官损伤、更多营养或饮食建议以及当地支持小组。
根据WHOQOL-100得分和针对GH的调查，由于身体和心理症状更严重，GH确诊者的总体生活质量更差。改善医疗保健可能有助于缩小生活质量的差距。
