1. Repositório Institucional UFC
2. FAMED - Faculdade de Medicina
3. DMC - Departamento de Medicina Clínica
4. DMC - Artigos publicados em revistas científicas

Type:	Artigo de Periódico
Title:	HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload : an observational cross-sectional study
Authors:	Souza, Geane Felix de Ribeiro Jr, Howard Lopes Sousa, Juliana Cordeiro de Heredia, Fabíola Fernandes Freitas, Rivelilson Mendes de Martins, Manoel Ricardo Alves Gonçalves, Romélia Pinheiro Pinheiro, Ronald Feitosa Magalhães, Silvia Maria Meira
Keywords:	Síndromes Mielodisplásicas
Issue Date:	Jun-2015
Publisher:	BMJ Open
Citation:	SOUZA, 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.
Abstract in Brazilian Portuguese:	Objective: 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.
URI:	http://www.repositorio.ufc.br/handle/riufc/12771
ISSN:	2044-6055
Appears in Collections:	DMC - Artigos publicados em revistas científicas

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