Evidence For A Proatherogenic Biochemical Phenotype In Beta Thalassemia Minor And Intermedia

The purpose of this study was to focus on pathophysiological mechanisms linking beta-thalassemia intermedia (beta-TI) and minor (beta-TMI) with cardiovascular risk. Iron status, prooxidant-antioxidant balance and lipid profiles in serum, and lipid content in peripheral blood mononuclear cells (PBMCs) were evaluated in 20 beta-TMI subjects, 22 beta-TI patients and in 30 nonthalassemic blood donors. The mRNA levels of some genes involved in the regulation of iron and cholesterol metabolism were also determined. In beta-TI and in beta-TMI, serum iron, prooxidant-antioxidant ratio, transferrin saturation and erythropoietin levels were higher, while transferrin and hepcidin were lower compared to controls. Hepcidin and interleukin-1 alpha mRNA levels were found to be reduced in beta-TI- and beta-TMI-PBMCs, while those of tumor necrosis factor alpha were increased. A reduction in high-density lipoprotein cholesterol in serum and an accumulation of neutral lipids coupled with increased mRNA levels of acetyl-coenzyme A: cholesterol acyltransferase and decreased neutral cholesterol ester hydrolase in PBMCs were also observed in beta-TI and beta-TMI compared to controls. Taken together, these findings provide experimental support for the idea that not only beta-TI patients but also beta-TMI have a proatherogenic biochemical phenotype which may contribute to increase their cardiovascular disease risk. Copyright (C) 2011 S. Karger AG, Basel