title: Evidence for a proatherogenic biochemical phenotype in beta thalassemia minor and intermedia.
abstract: The purpose of this study was to focus on pathophysiological mechanisms linking β-thalassemia intermedia (β-TI) and minor (β-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 β-TMI subjects, 22 β-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 β-TI and in β-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-1α mRNA levels were found to be reduced in β-TI- and β-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 β-TI and β-TMI compared to controls. Taken together, these findings provide experimental support for the idea that not only β-TI patients but also β-TMI have a proatherogenic biochemical phenotype which may contribute to increase their cardiovascular disease risk.
authors.affiliation: Department of Internal Medical Sciences, University of Cagliari, Monserrato, Italy.
authors.forename: Maria Eliana
authors.initials: ME
authors.lastname: Lai
authors.forename: Stefania
authors.initials: S
authors.lastname: Vacquer
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Carta
authors.forename: Alessandra
authors.initials: A
authors.lastname: Spiga
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Cocco
authors.forename: Claudia
authors.initials: C
authors.lastname: Abete
authors.forename: Sandra
authors.initials: S
authors.lastname: Dessì
authors.forename: Antonella
authors.initials: A
authors.lastname: Mandas
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics / Q000378:metabolism; D000328:Adult; D023181:Antimicrobial Cationic Peptides / Q000097:blood / Q000235:genetics / Q000378:metabolism; D050197:Atherosclerosis / Q000453:epidemiology / Q000209:etiology*; D008076:Cholesterol, HDL / Q000097:blood; D004921:Erythropoietin / Q000097:blood; D005260:Female; D064451:Hepcidins; D006801:Humans; D053582:Interleukin-1alpha / Q000235:genetics / Q000378:metabolism; D007501:Iron / Q000032:analysis / Q000097:blood; D007558:Italy / Q000453:epidemiology; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism; D012307:Risk Factors; D012720:Severity of Illness Index; D002787:Sterol Esterase / Q000235:genetics / Q000378:metabolism; D014168:Transferrin / Q000737:chemistry / Q000378:metabolism; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics / Q000378:metabolism; D017086:beta-Thalassemia / Q000097:blood / Q000378:metabolism / Q000503:physiopathology*
chemical_list: D023181:Antimicrobial Cationic Peptides; D008076:Cholesterol, HDL; C554270:EPO protein, human; C578702:HAMP protein, human; D064451:Hepcidins; C508584:IL1A protein, human; D053582:Interleukin-1alpha; D012333:RNA, Messenger; C439524:TNF protein, human; D014168:Transferrin; D014409:Tumor Necrosis Factor-alpha; D004921:Erythropoietin; D007501:Iron; C506639:ACAT1 protein, human; D000101:Acetyl-CoA C-Acetyltransferase; D002787:Sterol Esterase