Waqar M, El Asmar ML, Gray D, Immanuel A, Shearman J, Ramage JK. Quality of life in hereditary haemochromatosis: Scoping review of symptoms and initial ranking of symptoms by a special interest group. World J Hepatol 2025; 17(10): 105799 [DOI: 10.4254/wjh.v17.i10.105799]
Corresponding Author of This Article
Marie Line El Asmar, MD, Department of Gastroenterology, Hampshire Hospitals NHS Foundation Trust, Aldermaston Road, Basingstoke RG24 9NA, Hampshire, United Kingdom. marieline.elasmar@hhft.nhs.uk
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Gastroenterology & Hepatology
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Minireviews
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Oct 27, 2025 (publication date) through Oct 27, 2025
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World Journal of Hepatology
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1948-5182
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Waqar M, El Asmar ML, Gray D, Immanuel A, Shearman J, Ramage JK. Quality of life in hereditary haemochromatosis: Scoping review of symptoms and initial ranking of symptoms by a special interest group. World J Hepatol 2025; 17(10): 105799 [DOI: 10.4254/wjh.v17.i10.105799]
World J Hepatol. Oct 27, 2025; 17(10): 105799 Published online Oct 27, 2025. doi: 10.4254/wjh.v17.i10.105799
Quality of life in hereditary haemochromatosis: Scoping review of symptoms and initial ranking of symptoms by a special interest group
Muhammad Waqar, Marie Line El Asmar, Debra Gray, Anita Immanuel, Jeremy Shearman, John K Ramage
Muhammad Waqar, Marie Line El Asmar, Anita Immanuel, Department of Gastroenterology, Hampshire Hospitals NHS Foundation Trust, Basingstoke RG24 9NA, United Kingdom
Debra Gray, Department of Psychology, University of Winchester, Winchester SO22 4NR, United Kingdom
Jeremy Shearman, Department of Gastroenterology, South Warwickshire University Foundation Trust, Warwick CV21 3SR, Warwickshire, United Kingdom
John K Ramage, Neuroendocrine Tumour Unit, King's College Hospital, London SE5 9RS, United Kingdom
Author contributions: Waqar M contributed to formal analysis, investigation, methodology, project administration, visualisation, and writing-review and editing of the manuscript; El Asmar ML contributed to the methodology, project administration, visualisation, and writing-original draft; Gray D contributed to the conceptualisation and data curation; Immanuel A assisted with the writing-review and editing; Shearman J provided supervision and contributed to the writing-review and editing; Ramage JK contributed to the conceptualisation, formal analysis, methodology, project administration, supervision, visualisation, and writing-review and editing; all authors have read and agreed to the published version of the manuscript.
Conflict-of-interest statement: The authors have no competing interests to declare.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Marie Line El Asmar, MD, Department of Gastroenterology, Hampshire Hospitals NHS Foundation Trust, Aldermaston Road, Basingstoke RG24 9NA, Hampshire, United Kingdom. marieline.elasmar@hhft.nhs.uk
Received: February 7, 2025 Revised: April 12, 2025 Accepted: September 24, 2025 Published online: October 27, 2025 Processing time: 262 Days and 19.5 Hours
Abstract
Haemochromatosis is the most common genetic condition among people of European descent, resulting in iron overload and multi-organ dysfunction. Despite early detection and treatment advances, affected individuals experience significant morbidity impacting their quality of life (QoL). To scope the literature for QoL issues and rank them in order of relevance by professional bodies. A literature search was conducted using PubMed, EMBASE, and MEDLINE in addition to a grey literature search against the eligibility criteria up to July 2023. Inclusion criteria included original articles with data concerning symptoms and QoL in patients with haemochromatosis. Nineteen issues were identified from 47 articles and scored by a haemochromatosis special interest group using a scale of 1 to 10 (10 = highest importance). Mean scores were then calculated for each issue. Fatigue, joint pain and sexual issues were key factors associated with impaired QoL. The least relevant were weight changes and abdominal pain. Other issues raised were anxiety, the development of diabetes, and concerns about genetics and family. This is the first scoping review examining common symptoms affecting QoL of patients with hereditary haemochromatosis. Further studies, including patient interviews and a randomised controlled trial, will inform a validated QoL questionnaire.
Core Tip: Haemochromatosis presents with diverse symptoms that significantly impact patients’ daily lives. Despite this, no validated tool currently exists to assess quality of life (QoL) in this population. We conducted a scoping review of 47 articles to address this gap, identifying 19 QoL-related issues and symptoms. These were subsequently ranked by a haemochromatosis special interest group based on their importance and relevance. The findings highlight key symptoms affecting haemochromatosis patients’ QoL from literature and professional perspectives and will help inform the development of a standardised questionnaire for evaluating QoL in patients with hereditary haemochromatosis.
