Por favor, use este identificador para citar o enlazar este ítem: http://www.repositorio.ufc.br/handle/riufc/12771
Título em portugués: HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload : an observational cross-sectional study
Autor: 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
Palabras clave : Síndromes Mielodisplásicas
Fecha de publicación : jun-2015
Editorial : BMJ Open
Citación : 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.
Resumen en portugués: 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
metadata.dc.type: Artigo de Periódico
ISSN : 2044-6055
Aparece en las colecciones: DMC - Artigos publicados em revistas científicas

Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
2015_art_hlribeirojr.pdf602,23 kBAdobe PDFVisualizar/Abrir


Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.