Journal article
Natural history and management of HFE-hemochromatosis
Seminars in Liver Disease, Vol.31(3), pp.293-301
2011
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.
Details
- Title
- Natural history and management of HFE-hemochromatosis
- Authors/Creators
- E. Gan (Author/Creator) - The University of Western AustraliaL. Powell (Author/Creator)J. Olynyk (Author/Creator) - School of Medicine and Pharmacology
- Publication Details
- Seminars in Liver Disease, Vol.31(3), pp.293-301
- Publisher
- Thieme Medical Publishers
- Identifiers
- 991005544989107891
- Copyright
- © 2011 Thieme Medical Publishers
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- 1 Clinical & Life Sciences
- 1.184 Physiology & Metals
- 1.184.573 Iron Metabolism
- Web Of Science research areas
- Gastroenterology & Hepatology
- ESI research areas
- Clinical Medicine