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World J Hepatol. Nov 27, 2022; 14(11): 1931-1939
Published online Nov 27, 2022. doi: 10.4254/wjh.v14.i11.1931
Haemochromatosis revisited
Aline Morgan Alvarenga, Pierre Brissot, Paulo Caleb Junior Lima Santos
Aline Morgan Alvarenga, Paulo Caleb Junior Lima Santos, Department of Pharmacology - Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo 04044-020, Brazil
Pierre Brissot, University of Rennes1, Rennes 35065, France
Author contributions: Alvarenga AM, Brissot P, and Santos PC have contributed equally to this work.
Conflict-of-interest statement: All authors report no relevant conflict of interest for this article.
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: Paulo Caleb Junior Lima Santos, PhD, Adjunct Professor, Department of Pharmacology - Escola Paulista de Medicina, Universidade Federal de São Paulo, 03 de Maio Street, 100. INFAR, 4° andar - Vila Clementino - São Paulo, SP, São Paulo 04044-020, Brazil. paulo.caleb@unifesp.br
Received: May 3, 2022
Peer-review started: May 3, 2022
First decision: June 8, 2022
Revised: June 27, 2022
Accepted: November 2, 2022
Article in press: November 2, 2022
Published online: November 27, 2022
Abstract

Haemochromatosis is a genetic disease caused by hepcidin deficiency, responsible for an increase in intestinal iron absorption. Haemochromatosis is associated with homozygosity for the HFE p.Cys282Tyr mutation. However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) has concluded that the classification based in different molecular subtypes is difficult to be adopted in clinical practice and has proposed a new classification approaching clinical questions and molecular complexity. The aim of the present review is to provide an update on classification, pathophysiology and therapeutic recommendations.

Keywords: Haemochromatosis, Iron overload, HFE, Molecular diagnosis, Hepcidin

Core Tip: Haemochromatosis is a genetic disease caused by hepcidin deficiency, responsible for an increase in intestinal iron absorption. Haemochromatosis is associated with homozygosity for the HFE p.Cys282Tyr mutation. However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) has concluded that classification based on different molecular subtypes is difficult to be adopted in clinical practice and has proposed a new classification approaching clinical questions and molecular complexity. The aim of the present review is to provide an update on classification, pathophysiology and therapeutic recommendations.