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11/24/2022 12:34:51 PM | Browse: 12 | Download: 11
Publication Name World Journal of Hepatology
Manuscript ID 77490
Country/Territory Brazil
Received
2022-05-03 01:28
Peer-Review Started
2022-05-03 01:29
To Make the First Decision
Return for Revision
2022-06-08 10:32
Revised
2022-06-27 14:23
Second Decision
2022-11-02 03:25
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-11-03 04:27
Articles in Press
2022-11-03 04:27
Publication Fee Transferred
Edit the Manuscript by Language Editor
2022-09-28 17:34
Typeset the Manuscript
2022-11-08 09:29
Publish the Manuscript Online
2022-11-24 12:34
ISSN 1948-5182 (online)
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: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics and Heredity
Manuscript Type Minireviews
Article Title Haemochromatosis revisited
Manuscript Source Unsolicited Manuscript
All Author List Aline Morgan Alvarenga, Pierre Brissot and Paulo Caleb Junior Lima Santos
ORCID
Author(s) ORCID Number
Paulo Caleb Junior Lima Santos http://orcid.org/0000-0002-8297-0793
Funding Agency and Grant Number
Corresponding Author Paulo Caleb Junior Lima Santos, PhD, Adjunct Professor, Department of Pharmacology - Escola Paulista de Medicina (EPM-Unifesp), Universidade Federal de São Paulo, Adress: 03 de Maio St., 100. INFAR, 4° andar - Vila Clementino - São Paulo, SP, São Paulo 04044-020, São Paulo, Brazil. paulo.caleb@unifesp.br
Key Words 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.
Publish Date 2022-11-24 12:34
Citation Alvarenga AM, Brissot P, Santos PCJ. Haemochromatosis revisited. World J Hepatol 2022; 14(11): 1931-1939
URL https://www.wjgnet.com/1948-5182/full/v14/i11/1931.htm
DOI https://dx.doi.org/10.4254/wjh.v14.i11.1931
Full Article (PDF) WJH-14-1931.pdf
Full Article (Word) WJH-14-1931.docx
Manuscript File 77490_Auto_Edited-LM.docx
Answering Reviewers 77490-Answering reviewers.pdf
Audio Core Tip 77490-Audio core tip.mp4
Conflict-of-Interest Disclosure Form 77490-Conflict-of-interest statement.pdf
Copyright License Agreement 77490-Copyright license agreement.pdf
Non-Native Speakers of English Editing Certificate 77490-Language certificate.pdf
Peer-review Report 77490-Peer-review(s).pdf
Scientific Misconduct Check 77490-Bing-Wu YXJ-2.png
Scientific Editor Work List 77490-Scientific editor work list.pdf