Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorFONSECA, Paula Fernanda Silva
dc.contributor.authorCANCADO, Rodolfo Delfini
dc.contributor.authorNAOUM, Flavio Augusto
dc.contributor.authorDINARDO, Carla Luana
dc.contributor.authorFONSECA, Guilherme Henrique Hencklain
dc.contributor.authorGUALANDRO, Sandra Fatima Menosi
dc.contributor.authorKRIEGER, Jose Eduardo
dc.contributor.authorPEREIRA, Alexandre Costa
dc.contributor.authorBRISSOT, Pierre
dc.contributor.authorSANTOS, Paulo Caleb Junior Lima
dc.date.accessioned2018-02-02T16:53:24Z
dc.date.available2018-02-02T16:53:24Z
dc.date.issued2018
dc.description.abstractBackground: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation; group 2: other genotypes). Results: Group 1 had higher means of plasma transferrin saturation (86 +/- 19%) and serum ferritin (1669 +/- 1209 ng/mL) compared to group 2 (71 +/- 12%, 1252 +/- 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). Conclusions: Our main finding was that patients with p. Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.
dc.description.indexMEDLINE
dc.description.sponsorshipCoordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) [2013/09295-3]
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), Brazil [2013/20614-3]
dc.identifier.citationBMC MEDICAL GENETICS, v.19, article ID 3, 5p, 2018
dc.identifier.doi10.1186/s12881-017-0513-5
dc.identifier.issn1471-2350
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/24893
dc.language.isoeng
dc.publisherBIOMED CENTRAL LTD
dc.relation.ispartofBMC Medical Genetics
dc.rightsopenAccess
dc.rights.holderCopyright BIOMED CENTRAL LTD
dc.subjectHereditary hemochromatosis
dc.subjectQuality of life
dc.subjectShort form health survey
dc.subjectSF-36
dc.subject.otherprimary iron overload
dc.subject.otherdiagnosis
dc.subject.othermutations
dc.subject.otherdisease
dc.subject.othersf-36
dc.subject.wosGenetics & Heredity
dc.titleQuality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryisofr
hcfmusp.author.externalCANCADO, Rodolfo Delfini:Santa Casa Med Sch, Hematol & Hemotherapy Sect, Sao Paulo, Brazil
hcfmusp.author.externalNAOUM, Flavio Augusto:Acad Ciencia & Tecnol, Sao Jose Do Rio Preto, Brazil
hcfmusp.author.externalBRISSOT, Pierre:Univ Rennes, Pontchaillou Univ Hosp, Liver Dis Unit, Rennes, France; Natl Reference Ctr Rare Iron Overload Dis Genet O, Rennes, France
hcfmusp.citation.scopus3
hcfmusp.contributor.author-fmusphcPAULA FERNANDA DA SILVA FONSECA
hcfmusp.contributor.author-fmusphcCARLA LUANA DINARDO
hcfmusp.contributor.author-fmusphcGUILHERME HENRIQUE HENCKLAIN FONSECA
hcfmusp.contributor.author-fmusphcSANDRA FATIMA MENOSI GUALANDRO
hcfmusp.contributor.author-fmusphcJOSE EDUARDO KRIEGER
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcPAULO CALEB JUNIOR DE LIMA SANTOS
hcfmusp.description.articlenumber3
hcfmusp.description.volume19
hcfmusp.origemWOS
hcfmusp.origem.pubmed29301508
hcfmusp.origem.scopus2-s2.0-85042514643
hcfmusp.origem.wosWOS:000419884300001
hcfmusp.publisher.cityLONDON
hcfmusp.publisher.countryENGLAND
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