Serum ferritin and transferrin saturation levels in β0 and β + thalassemia patients

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dc.contributor.authorEstevão, I. F. [UNESP]
dc.contributor.authorPeitl, Jr. [UNESP]
dc.contributor.authorBonini-Domingos, C. R. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:25:52Z
dc.date.available2014-05-27T11:25:52Z
dc.date.issued2011-05-16
dc.description.abstractThere have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. One hundred and thirty-eight individuals were analyzed, 90 thalasemic β0 and 48 thalasemic β+, identified by classical and molecular methods. Mutations in the hemochromatosis (HFE) gene, detected using PCR-RFLP, were found in 30.4% of these beta-thalassemic patients; heterozygosity for H63D (20.3%) was the most frequent. Ferritin levels and transferrin saturation were similar in beta-thalassemics with and without mutations in the HFE gene. Ferritin concentrations were significantly higher in men and in individuals over 40 years of age. Transferrin saturation also was significantly higher in men, but only in those without HFE gene mutations. There was no significant difference in the iron profile among the β0 and β+ thalassemics, with and without HFE gene mutations. The frequency of ferritin values above 200 ng/mL in women and 300 ng/mL in men was also similar in β0 and β+ thalassemics (P > 0.72). Our conclusion is that ferritin levels are variable in the beta-thalassemia, trait regardless of the type of beta-globin mutation. Furthermore, HFE gene polymorphisms do not change the iron profile in these individuals. ©FUNPEC-RP www.funpecrp.com.br.en
dc.description.affiliationDepartamento de Biologia Universidade Estadual Paulista Júlio de Mesquita Filho, São José do Rio Preto, SP
dc.description.affiliationUnespDepartamento de Biologia Universidade Estadual Paulista Júlio de Mesquita Filho, São José do Rio Preto, SP
dc.format.extent632-639
dc.identifierhttp://dx.doi.org/10.4238/vol10-2gmr1016
dc.identifier.citationGenetics and Molecular Research, v. 10, n. 2, p. 632-639, 2011.
dc.identifier.doi10.4238/vol10-2gmr1016
dc.identifier.file2-s2.0-79955866763.pdf
dc.identifier.issn1676-5680
dc.identifier.lattes3279428066176719
dc.identifier.orcid0000-0002-4603-9467
dc.identifier.scopus2-s2.0-79955866763
dc.identifier.urihttp://hdl.handle.net/11449/72427
dc.language.isoeng
dc.relation.ispartofGenetics and Molecular Research
dc.relation.ispartofsjr0,439
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectBeta-thalassemia
dc.subjectFerritin
dc.subjectHyperferritinemia
dc.subjectTransferrin saturation
dc.subjectbeta globin
dc.subjectferritin
dc.subjecthemojuvelin
dc.subjecttransferrin
dc.subjectadult
dc.subjectage
dc.subjectaged
dc.subjectbeta thalassemia
dc.subjectclinical feature
dc.subjectcontrolled study
dc.subjectfemale
dc.subjectferritin blood level
dc.subjectgene mutation
dc.subjecthemochromatosis
dc.subjectheterozygosity
dc.subjecthigh performance liquid chromatography
dc.subjecthuman
dc.subjectiron metabolism
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmutational analysis
dc.subjectpolymerase chain reaction
dc.subjectsex difference
dc.subjectsingle nucleotide polymorphism
dc.subjecttransferrin blood level
dc.subjectAdult
dc.subjectAge Factors
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectbeta-Thalassemia
dc.subjectFemale
dc.subjectFerritins
dc.subjectHemochromatosis
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectIron
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectSex Factors
dc.subjectTransferrin
dc.titleSerum ferritin and transferrin saturation levels in β0 and β + thalassemia patientsen
dc.typeArtigo
dcterms.licensehttp://geneticsmr.com/node/2
unesp.author.lattes3279428066176719[3]
unesp.author.orcid0000-0002-4603-9467[3]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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