Linked Life Data

12064862

Source:http://linkedlifedata.com/resource/pubmed/id/12064862

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-6-14
pubmed:abstractText
Hereditary hemochromatosis (HH) comprises several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorption and secondary tissue iron deposition. The most common form of this disorder is called HFE-related HH and is caused by homozygosity for the C282Y mutation in the HFE gene. Recently, other less common hereditary forms of iron overload have been recognized and are designated as non-HFE-related HH. The identification and cloning of HFE and other genes involved in iron metabolism has greatly expanded our understanding of many aspects of HH. The introduction of a commercially available genetic test for the C282Y and H63D mutations of HFE allows presymptomatic diagnosis, and adds precision to studies of the population genetics of HFE-related HH. It is now recognized that a substantial proportion of C282Y homozygotes does not develop clinically significant iron overload, and modifier genes may be involved in this phenomenon. Mouse models of HH and cell culture studies have increased our understanding of the normal physiology and pathophysiology of iron homeostasis. Future investigations will refine our knowledge of the mechanisms of action of HFE protein, the phenotypic variability observed in persons homozygous for the C282Y mutation, and the mechanisms responsible for non-HFE-related HH.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1049-5118
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
68-79
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Pathogenesis of hereditary hemochromatosis: genetics and beyond.
pubmed:affiliation
Department of Internal Medicine, Saint Louis University School of Medicine, MO 63110-0250, USA. brittonr@slu.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't