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HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload: an observational cross-sectional study.

De Souza GF, Ribeiro HL, De Sousa JC, Heredia FF, De Freitas RM, Martins MR, Gonçalves RP, Pinheiro RF, Magalhães SM - BMJ Open (2015)

Bottom Line: 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.We observed a significant increase in MDA levels in patients with MDS and IOL, suggesting an increased lipid peroxidation in these patients.

View Article: PubMed Central - PubMed

Affiliation: Post-Graduate Program in Medical Science, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.

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Number of individuals analysed and percentage of HFE gene mutations (C282Y; H63D) in the groups studied.
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BMJOPEN2014006048F2: Number of individuals analysed and percentage of HFE gene mutations (C282Y; H63D) in the groups studied.

Mentions: Of the 78 patients, 24 (30.77%) were identified as having at least one variation in the HFE gene, being 14 (58.33%) in male patients. Only 5 volunteers (5.75%) presented with gene variation. In the patients with MDS with IOL, the H63D variant was observed as homozygous in 5% (1/20), as heterozygous in 30% (6/20), and the C282Y variant was detected as heterozygous in 5% (1/20). In one patient, a double heterozygous variant was detected (C282Y/H63D). In the group of patients without IOL, the H63D variant was detected as homozygous in 5.2% (3/58) and as heterozygous in 24.14% (14/58). No S65C mutation was detected. The distribution of the genotypes according to variation type is shown in table 2 and figure 2.


HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload: an observational cross-sectional study.

De Souza GF, Ribeiro HL, De Sousa JC, Heredia FF, De Freitas RM, Martins MR, Gonçalves RP, Pinheiro RF, Magalhães SM - BMJ Open (2015)

Number of individuals analysed and percentage of HFE gene mutations (C282Y; H63D) in the groups studied.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4390728&req=5

BMJOPEN2014006048F2: Number of individuals analysed and percentage of HFE gene mutations (C282Y; H63D) in the groups studied.
Mentions: Of the 78 patients, 24 (30.77%) were identified as having at least one variation in the HFE gene, being 14 (58.33%) in male patients. Only 5 volunteers (5.75%) presented with gene variation. In the patients with MDS with IOL, the H63D variant was observed as homozygous in 5% (1/20), as heterozygous in 30% (6/20), and the C282Y variant was detected as heterozygous in 5% (1/20). In one patient, a double heterozygous variant was detected (C282Y/H63D). In the group of patients without IOL, the H63D variant was detected as homozygous in 5.2% (3/58) and as heterozygous in 24.14% (14/58). No S65C mutation was detected. The distribution of the genotypes according to variation type is shown in table 2 and figure 2.

Bottom Line: 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.We observed a significant increase in MDA levels in patients with MDS and IOL, suggesting an increased lipid peroxidation in these patients.

View Article: PubMed Central - PubMed

Affiliation: Post-Graduate Program in Medical Science, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.

Show MeSH
Related in: MedlinePlus