TY - JOUR
T1 - Clinical Perspectives on hereditary Hemochromatosis
AU - Ayonrinde, O.T.
AU - Milward, E.A.
AU - Chua, A.C.G.
AU - Trinder, Debbie
AU - Olynyk, John
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
U2 - 10.1080/10408360802335716
DO - 10.1080/10408360802335716
M3 - Article
C2 - 18712630
SN - 1040-8363
VL - 45
SP - 451
EP - 484
JO - Critical Reviews in Clinical Laboratory Sciences
JF - Critical Reviews in Clinical Laboratory Sciences
IS - 5
ER -