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.
journal_name
Crit Rev Clin Lab Scijournal_title
Critical reviews in clinical laboratory sciencesauthors
Ayonrinde OT,Milward EA,Chua AC,Trinder D,Olynyk JKdoi
10.1080/10408360802335716subject
Has Abstractpub_date
2008-01-01 00:00:00pages
451-84issue
5eissn
1040-8363issn
1549-781Xpii
901747407journal_volume
45pub_type
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journal_title:Critical reviews in clinical laboratory sciences
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journal_title:Critical reviews in clinical laboratory sciences
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journal_title:Critical reviews in clinical laboratory sciences
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