Efecto de las alteraciones en el gen hfe y de la dieta sobre el exceso de hierro en la población

Identifier:  TDX:512

Handle: https://hdl.handle.net/20.500.11797/TDX512

Authors:  Aranda Pons, Núria

Abstract:
Iron is a mineral that is essential to life and although its lack is clearly recognized as being harmful to health, moderate increases in levels are not. Excessive increases in levels, however, have been established as a serious hereditary disease, Hereditary Hemochromatosis, which is caused by mutations in the HFE gene. These mutations increase the absorption of dietary iron, leading to a serious iron overload that damages the body cells and prevents them from functioning as they should.In recent years, however, slightly increased iron levels have been associated with an increase in oxidative stress that may contribute to the appearance of chronic diseases that are very common in our society such as cardiovascular disease, cancer, diabetes and several neurodegenerative diseases.In this study, therefore, we aimed to establish the prevalence of mutations in the HFE gene (C282Y, H63D and S65C) and the prevalence of moderate iron overload in the general population so that we could then go on to study the relations between the mutations of the HFE gene, diet and iron levels, and analyze the effect of these levels on the oxidative stress in the same sample of subjects. To this end, we studied 815 individuals from three municipalities in the province of Tarragona who were representative of our population.Our study shows that a high percentage (46%) of subjects have mutations in the HFE gene and that 25.3% have iron overload (moderate in 22.6% and severe in 2.7%). Such genotypes as the compounds C282Y/H63D and H63D/S65C, which are not very common in our population (2.5%), most increase iron levels. The intake of iron and alcohol, and the decrease in calcium intake are also associated with an increase in the levels of organic iron. We also observed that women who have increased