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Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)

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dc.contributor.authorSpínola, Carla
dc.contributor.authorBrehm, António
dc.contributor.authorSpínola, Hélder
dc.date.accessioned2018-11-09T14:53:47Z
dc.date.available2018-11-09T14:53:47Z
dc.date.issued2011
dc.description.abstractHereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene. Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be associated to a milder iron overload. Since allele and genotype frequencies of these three variants of the HFE gene vary between populations, the determination of their prevalence in Madeira Island will clarify the population susceptibility to hereditary hemochromatosis. One hundred and fifty-four samples from Madeira Island were genotyped for the three most common HFE gene mutations, H63D, C282Y, and S65C, by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results have shown a prevalence of 20.5%, 0.33%, and 1% for H63D, C282Y, and S65C, respectively. Accordingly to our estimates, both genotypes associated to hereditary hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSpínola, C., Brehm, A., & Spínola, H. (2011). Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal). Annals of hematology, 90(1), 29-32.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2149
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer-Verlagpt_PT
dc.subjectHFEpt_PT
dc.subjectH63Dpt_PT
dc.subjectC282Ypt_PT
dc.subjectS65Cpt_PT
dc.subjectHereditary hemochromatosispt_PT
dc.subjectMadeira Island (Portugal)pt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titlePrevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage32pt_PT
oaire.citation.startPage29pt_PT
oaire.citation.titleAnnals of hematologypt_PT
oaire.citation.volume90(1)pt_PT
person.familyNameBrehm
person.familyNameSpínola
person.givenNameAntonio
person.givenNameHélder
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0003-3168-5340
person.identifier.orcid0000-0002-6455-1595
person.identifier.scopus-author-idAuthor ID 7006085833
person.identifier.scopus-author-id10242534600
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication1ba0f1f6-73c8-46b2-b152-8cd3c90207ed
relation.isAuthorOfPublication.latestForDiscovery62d279e2-247a-4652-a370-3e8c2a846e31

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