Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/43443
- Clinical perspectives on hereditary hemochromatosis
Ayonrinde, Oyekoya T.;
Milward, Elizabeth A.;
Chua, Anita C. G.;
Olynyk, John K.
- The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
- 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.
- Critical Reviews in Clinical Laboratory Sciences Vol. 45, Issue 5, p. 451-484
- Publisher Link
- Informa Healthcare
hepatic iron concentration;
- Resource Type
- journal article