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HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System

2019-08-22Journal article Open access
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dc.contributor.authorPorto, Graça
dc.contributor.authorCruz, Eugénia
dc.contributor.authorTeles, M.
dc.contributor.authorde Sousa, Maria
dc.date.accessioned2020-08-18T14:36:14Z
dc.date.available2020-08-18T14:36:14Z
dc.date.issued2019-08-22
dc.description.abstractThe HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leukocyte antigens (HLA). The availability of a good genetic marker in subjects homozygous for the C282Y variant in HFE (hereditary Fe), the reliability in serum markers such as transferrin saturation and serum ferritin, plus the establishment of noninvasive methods for the estimation of hepatic iron overload, all transformed hemochromatosis into a unique age related disease where prevention became the major goal. We were challenged by the finding of iron overload in a 9-year-old boy homozygous for the C282Y HFE variant, with two brothers aged 11 and 5 also homozygous for the mutation. We report a 20 year follow-up during which the three boys were seen yearly with serial determinations of iron parameters and lymphocyte counts. This paper is divided in three sections: Learning, applying, and questioning. The result is the illustration of hemochromatosis as an age related disease in the transition from childhood to adult life and the confirmation of the inextricable link between iron overload and the cells of the immune system.pt_PT
dc.description.sponsorshipThis research was partially supported by FEDER funds through COMPETE - and by Norte 2020 Portugal Regional Operational Programme (Norte-01-0145-FEDER-000012)pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPorto G, Cruz E, Teles MJ, de Sousa M. HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System. Pharmaceuticals (Basel). 2019;12(3):122. Published 2019 Aug 22. doi:10.3390/ph12030122pt_PT
dc.identifier.doi10.3390/ph12030122pt_PT
dc.identifier.issn1424-8247
dc.identifier.urihttp://hdl.handle.net/10400.16/2438
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1424-8247/12/3/122pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCD8+ T cellspt_PT
dc.subjectHFEpt_PT
dc.subjectMHCpt_PT
dc.subjectT lymphocytespt_PT
dc.subjecthemochromatosispt_PT
dc.subjectnatural historypt_PT
dc.subjectpreventionpt_PT
dc.titleHFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological Systempt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage122pt_PT
oaire.citation.titlePharmaceuticals (Basel, Switzerland)pt_PT
oaire.citation.volume12pt_PT
person.familyNamePorto
person.familyNameCruz
person.familyNameTeles
person.givenNameGraça
person.givenNameEugénia
person.givenNameMaria Jose
person.identifier.ciencia-id431B-A46D-D7A0
person.identifier.ciencia-id0A1F-FB7B-554B
person.identifier.orcid0000-0002-1923-4638
person.identifier.orcid0000-0002-4801-5047
person.identifier.orcid0000-0001-8281-1146
person.identifier.ridJ-7939-2013
person.identifier.scopus-author-id55910746800
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication6c1a91a8-b834-4b82-a7ff-baef60b5152a
relation.isAuthorOfPublicationbb73d89e-7ff4-4714-9f58-f1f3ce2c74f0
relation.isAuthorOfPublication1b8dd451-94bc-47fc-9bb2-bcadac363502
relation.isAuthorOfPublication.latestForDiscovery6c1a91a8-b834-4b82-a7ff-baef60b5152a

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