Natural history and management of HFE-hemochromatosis

Gan, Eng K., Powell, Lawrie W. and Olynyk, John K. (2011) Natural history and management of HFE-hemochromatosis. Seminars in Liver Disease, 31 3: 293-301. doi:10.1055/s-0031-1286060

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads

Author Gan, Eng K.
Powell, Lawrie W.
Olynyk, John K.
Title Natural history and management of HFE-hemochromatosis
Journal name Seminars in Liver Disease   Check publisher's open access policy
ISSN 0272-8087
Publication date 2011-08
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1055/s-0031-1286060
Volume 31
Issue 3
Start page 293
End page 301
Total pages 9
Place of publication New York, NY, United States
Publisher Thieme Medical Publishers
Collection year 2012
Language eng
Abstract Advances in our knowledge of hereditary hemochromatosis (HH) over the past 150 years have revealed new insights into this common genetic disorder. Meticulous family and HLA association studies followed ultimately by cloning of the HFE gene have dramatically changed our understanding of the natural history and manifestations of HH. Cross-sectional studies demonstrated that HH had a highly variable clinical and biochemical penetrance in susceptible individuals of northern European descent. “State-of-the-art” large longitudinal population studies have accurately defined the natural history. We now recognize that HH is not as discreet an entity as previously thought because genetic and environmental modifiers of disease penetrance are increasingly identified as influencing the clinical course of HH. While phlebotomy remains the cornerstone of therapy, our diagnostic approach has been refined to incorporate new biochemical, genetic, and noninvasive methods that complement more traditional approaches. This review aims to encapsulate this new knowledge in a framework that addresses commonly raised issues relating to the current natural history, diagnosis, and management of HH patients.
Keyword Natural history
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 2012 Collection
School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 15 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Sun, 25 Sep 2011, 00:02:25 EST by System User on behalf of School of Medicine