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Haemochromatosis
Citation
Brissot, P and Pietrangelo, A and Adams, PC and de Graaff, B and McLaren, CE and Loreal, O, Haemochromatosis, Nature Reviews. Disease Primers, 4 Article 18016. ISSN 2056-676X (2018) [Refereed Article]
Copyright Statement
Copyright 2018 Macmillan Publishers Limited, part of Springer Nature
Abstract
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer. Mutations in SLC40A1 (also known as FPN1; encoding ferroportin) that prevent hepcidin-ferroportin binding also cause haemochromatosis. Cellular iron excess in HFE and non-HFE forms of haemochromatosis is caused by increased concentrations of plasma iron, which can lead to the accumulation of iron in parenchymal cells, particularly hepatocytes, pancreatic cells and cardiomyocytes. Diagnosis is noninvasive and includes clinical examination, assessment of plasma iron parameters, imaging and genetic testing. The mainstay therapy is phlebotomy, although iron chelation can be used in some patients. Hepcidin supplementation might be an innovative future approach.
Item Details
Item Type: | Refereed Article |
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Keywords: | haemochromatosis, epidemiology, pathophysiology, diagnosis, treatment, quality of life |
Research Division: | Biomedical and Clinical Sciences |
Research Group: | Clinical sciences |
Research Field: | Clinical sciences not elsewhere classified |
Objective Division: | Health |
Objective Group: | Clinical health |
Objective Field: | Clinical health not elsewhere classified |
UTAS Author: | de Graaff, B (Dr Barbara de Graaff) |
ID Code: | 125189 |
Year Published: | 2018 |
Web of Science® Times Cited: | 161 |
Deposited By: | Menzies Institute for Medical Research |
Deposited On: | 2018-04-06 |
Last Modified: | 2019-12-03 |
Downloads: | 0 |
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