Please use this identifier to cite or link to this item:
Full metadata record
DC FieldValueLanguage
dc.contributor.authorSouza, Geane Felix de-
dc.contributor.authorRibeiro Jr, Howard Lopes-
dc.contributor.authorSousa, Juliana Cordeiro de-
dc.contributor.authorHeredia, Fabíola Fernandes-
dc.contributor.authorFreitas, Rivelilson Mendes de-
dc.contributor.authorMartins, Manoel Ricardo Alves-
dc.contributor.authorGonçalves, Romélia Pinheiro-
dc.contributor.authorPinheiro, Ronald Feitosa-
dc.contributor.authorMagalhães, Silvia Maria Meira-
dc.identifier.citationSOUZA, G. F. et al. HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload : an observational cross-sectional study. BMJ Open, v. 5, p. 1-7, jun. 2015.pt_BR
dc.publisherBMJ Openpt_BR
dc.subjectSíndromes Mielodisplásicaspt_BR
dc.titleHFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload : an observational cross-sectional studypt_BR
dc.typeArtigo de Periódicopt_BR
dc.description.abstract-ptbrObjective: A relation between transfusional IOL (iron overload), HFE status and oxidative damage was evaluated. Design, setting and participants: An observational cross-sectional study involving 87 healthy individuals and 78 patients with myelodysplastic syndromes (MDS) with and without IOL, seen at University Hospital of the Federal University of Ceará, Brazil, between May 2010 and September 2011. Methods: IOL was defined using repeated measures of serum ferritin ≥1000 ng/mL. Variations in the HFE gene were investigated using PCR/restriction fragment length polymorphism (RFLP). The biomarkers of oxidative stress (plasmatic malonaldehyde (MDA), glutathione peroxidase (GPx) and superoxide dismutase (SOD)) were determined by spectrophotometry. Results: The HFE gene variations were identified in 24 patients (30.77%) and 5 volunteers (5.74%). The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL. One patient showed double heterozygous variant (C282Y/ H63D) and serum ferritin of 11 649 ng/mL. In patients without IOL, the H63D variant was detected in 29.34%. Serum MDA levels were highest in patients with MDS with IOL, with a significant difference when compared with patients without IOL and healthy volunteers, pointing to the relationship between IOL and oxidative stress. The GPx and SOD were also significantly higher in these patients, indicating that lipid peroxidation increase was followed by an increase in antioxidant capacity. Higher ferritin levels were observed in patients with HFE gene variation. 95.7% of patients with MDS with the presence of HFE gene variations had received more of 20 transfusions. Conclusions: We observed a significant increase in MDA levels in patients with MDS and IOL, suggesting an increased lipid peroxidation in these patients. The accumulation of MDA alters the organisation of membrane phospholipids, contributing to the process of cellular degeneration. Results show that excess iron intensifies the process of cell damage through oxidative stress.pt_BR
Appears in Collections:DMC - Artigos publicados em revistas científicas

Files in This Item:
File Description SizeFormat 
2015_art_hlribeirojr.pdf602,23 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.