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

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dc.citation.volume19
dc.contributor.authorSilva Fonseca, Paula Fernanda
dc.contributor.authorCancado, Rodolfo Delfini
dc.contributor.authorNaoum, Flavio Augusto
dc.contributor.authorDinardo, Carla Luana
dc.contributor.authorHencklain Fonseca, Guilherme Henrique
dc.contributor.authorMenosi Gualandro, Sandra Fatima
dc.contributor.authorKrieger, Jose Eduardo
dc.contributor.authorPereira, Alexandre Costa
dc.contributor.authorBrissot, Pierre
dc.contributor.authorJunior Lima Santos, Paulo Caleb [UNIFESP]
dc.coverageLondon
dc.date.accessioned2020-07-08T13:09:53Z
dc.date.available2020-07-08T13:09:53Z
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 mutationen
dc.description.abstractgroup 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, respectivelyen
dc.description.abstractp = 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.en
dc.description.affiliationUniv Sao Paulo, Heart Inst InCor, Lab Genet & Mol Cardiol, Med Sch, Av Doutor Eneas de Carvalho Aguiar 44, BR-05403900 Sao Paulo, SP, Brazil
dc.description.affiliationSanta Casa Med Sch, Hematol & Hemotherapy Sect, Sao Paulo, Brazil
dc.description.affiliationAcad Ciencia & Tecnol, Sao Jose Do Rio Preto, Brazil
dc.description.affiliationFundacao Pro Sangue, Hemoctr Sao Paulo, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Med Sch, Hosp Clin, Hematol Serv, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Med Sch, Hosp Clin, Hematol & Hemotherapy Discipline, Sao Paulo, Brazil
dc.description.affiliationUniv Rennes, Pontchaillou Univ Hosp, Liver Dis Unit, Rennes, France
dc.description.affiliationNatl Reference Ctr Rare Iron Overload Dis Genet O, Rennes, France
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
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.description.sponsorshipIDCAPES: 2013/09295-3
dc.description.sponsorshipIDFAPESP: 2013/20614-3
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1186/s12881-017-0513-5
dc.identifier.citationBmc Medical Genetics. London, v. 19, p. -, 2018.
dc.identifier.doi10.1186/s12881-017-0513-5
dc.identifier.fileWOS000419884300001.pdf
dc.identifier.issn1471-2350
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54273
dc.identifier.wosWOS:000419884300001
dc.language.isoeng
dc.publisherBiomed Central Ltd
dc.relation.ispartofBmc Medical Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectHereditary hemochromatosisen
dc.subjectQuality of lifeen
dc.subjectShort form health surveyen
dc.subjectSF-36en
dc.titleQuality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosisen
dc.typeinfo:eu-repo/semantics/article
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