Journal article
Clinical perspectives on hereditary hemochromatosis
Critical Reviews in Clinical Laboratory Sciences, Vol.45(5), pp.451-484
2008
Abstract
Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene mutations has defined other types of HH, termed non-HFE HH. The regulatory protein hepcidin has a central role in iron homeostasis in these disorders. While the liver is the predominant organ of iron deposition and iron-overload-related disease in HFE-related HH, involvement of extrahepatic tissue can also result in morbidity and mortality if the disorder is not diagnosed before organ damage develops. This review traverses the road from HFE genotype to phenotype with a focus on clinical penetrance, modifier factors for disease expression, and current thoughts and controversies on HH diagnosis and screening.
Details
- Title
- Clinical perspectives on hereditary hemochromatosis
- Authors/Creators
- O.T. Ayonrinde (Author/Creator)E.A. Milward (Author/Creator)A.C.G. Chua (Author/Creator)D. Trinder (Author/Creator)J.K. Olynyk (Author/Creator)
- Publication Details
- Critical Reviews in Clinical Laboratory Sciences, Vol.45(5), pp.451-484
- Publisher
- Taylor & Francis
- Identifiers
- 991005544642607891
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
22 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.184 Physiology & Metals
- 1.184.573 Iron Metabolism
- Web Of Science research areas
- Medical Laboratory Technology
- ESI research areas
- Clinical Medicine