Recent advances in understanding haemochromatosis: A transition state

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dc.contributor.authorRobson K.J.H.
dc.contributor.authorMerryweather-Clarke A.T.
dc.contributor.authorCadet E.
dc.contributor.authorViprakasit V.
dc.contributor.authorZaahl M.G.
dc.contributor.authorPointon J.J.
dc.contributor.authorWeatherall D.J.
dc.contributor.authorRochette J.
dc.date.accessioned2011-05-15T16:03:34Z
dc.date.available2011-05-15T16:03:34Z
dc.date.issued2004
dc.description.abstractMutations in the hepcidin gene HAPM and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host's response to infection.
dc.description.versionReview
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation41
dc.identifier.citation10
dc.identifier.issn222593
dc.identifier.other10.1136/jmg.2004.020644
dc.identifier.urihttp://hdl.handle.net/10019.1/12682
dc.subjecthemojuvelin
dc.subjecthepcidin
dc.subjectiron
dc.subjectpeptide hormone
dc.subjectunclassified drug
dc.subjectdisease classification
dc.subjectdisease severity
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic disorder
dc.subjectHAMP gene
dc.subjecthemochromatosis
dc.subjectHJV gene
dc.subjecthost resistance
dc.subjecthuman
dc.subjectinfection
dc.subjectinheritance
dc.subjectintestine absorption
dc.subjectiron absorption
dc.subjectiron metabolism
dc.subjectjuvenile hemochromatosis
dc.subjectmass screening
dc.subjectnonhuman
dc.subjectpopulation genetics
dc.subjectpriority journal
dc.subjectreview
dc.subjectGenetic Screening
dc.subjectHemochromatosis
dc.subjectHistocompatibility Antigens Class I
dc.subjectHumans
dc.subjectInfection
dc.subjectIron Overload
dc.subjectMembrane Proteins
dc.titleRecent advances in understanding haemochromatosis: A transition state
dc.typeReview
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