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Jayachandran et al. Hepatoma Res 2020;6:8 Hepatoma Research
DOI: 10.20517/2394-5079.2019.35

Review Open Access

Association between hereditary hemochromatosis
and hepatocellular carcinoma: a comprehensive

review

Aparna Jayachandran , Ritu Shrestha , Kim R. Bridle , Darrell H. G. Crawford 1,2
1,2
1,2
1,2
1 The University of Queensland, Faculty of Medicine, Brisbane, QLD 4006, Australia.
2 Gallipoli Medical Research Institute, Greenslopes Private Hospital, Brisbane, QLD 4120, Australia.
Correspondence to: Prof. Darrell H. G. Crawford, Gallipoli Medical Research Institute, The University of Queensland, Faculty of Medicine,
Lower Lobby Level, Administration Building, Greenslopes Private Hospital, Greenslopes, QLD 4120, Australia.
E-mail: d.crawford@uq.edu.au

How to cite this article: Jayachandran A, Shrestha R, Bridle KR, Crawford DHG. Association between hereditary hemochromatosis and
HCC: a comprehensive review. Hepatoma Res 2020;6:8. http://dx.doi.org/10.20517/2394-5079.2019.35

Received: 15 Nov 2019 First Decision: 10 Dec 2019 Revised: 4 Feb 2020 Accepted: 18 Feb 2020 Published: 6 Mar 2020

Science Editor: Guang-Wen Cao Copy Editor: Jing-Wen Zhang Production Editor: Tian Zhang

Abstract
Hepatocellular carcinoma (HCC) is a significant global health problem with high morbidity and mortality. Its
incidence is increasing exponentially worldwide with a close overlap between annual incidence and death
rates. Even though significant advances have been made in HCC treatment, fewer than 20% of patients with
HCC are suitable for potentially curative treatment. Hereditary hemochromatosis (HH) is an important genetic
risk factor for HCC. HH is an autosomal recessive disorder of iron metabolism, characterised by elevated iron
deposition in most organs including the liver, leading to progressive organ dysfunction. HCC is a complication of
HH, nearly always occurring in patients with cirrhosis and contributes to increased mortality rates. Identifying
the susceptibility of development of HCC in HH patients has gained much traction. This review summarises the
current knowledge with regard to the association of HH and HCC in order to encourage further research. In this
review, we focus particularly on HFE gene-related HH. Herein, we highlight and discuss emerging clinical research
which addresses the prevalence of HCC in HH patients and the coincidence of HH with other risk factors for HCC
development. We also focus on the therapeutic tools in the management of HCC associated with HH.

Keywords: Hepatocellular carcinoma, hereditary hemochromatosis, HFE gene, C282Y mutation, H63D mutation,
liver cirrhosis

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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