Recent advances in hemochromatosis: a 2015 update: A summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia

Ekanayake, Dilum, Roddick, Clinton and Powell, Lawrie W (2015) Recent advances in hemochromatosis: a 2015 update: A summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia. Hepatology International, 9 2: 174-182. doi:10.1007/s12072-015-9608-2


Author Ekanayake, Dilum
Roddick, Clinton
Powell, Lawrie W
Title Recent advances in hemochromatosis: a 2015 update: A summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia
Journal name Hepatology International   Check publisher's open access policy
ISSN 1936-0541
1936-0533
Publication date 2015-04-01
Year available 2015
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1007/s12072-015-9608-2
Volume 9
Issue 2
Start page 174
End page 182
Total pages 9
Place of publication New Delhi, India
Publisher Springer (India) Private Ltd
Collection year 2016
Formatted abstract
This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though the most common form of hereditary hemochromatosis, C282Y gene mutations in the HFE gene, has been extensively studied, novel mutations in both HFE and non-HFE genes have been implicated in this disease. These have important implications for the Asia-Pacific region. In overload, deposition of iron in various body tissues leads to toxic damage. Patients commonly present with non-specific symptoms of malaise and lethargy. Biochemical, imaging and genetic testing can be carried out to confirm diagnosis. Venesection forms the mainstay of treatment and at present cascade screening of affected families is recommended over population-level screening.
Keyword Hemochromatosis
Iron overload
Iron storage disease
Genetics of iron storage
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2016 Collection
School of Medicine Publications
 
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