RGD Reference Report - Evidence for a proatherogenic biochemical phenotype in beta thalassemia minor and intermedia. - Rat Genome Database

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Evidence for a proatherogenic biochemical phenotype in beta thalassemia minor and intermedia.

Authors: Lai, ME  Vacquer, S  Carta, MP  Spiga, A  Cocco, P  Abete, C  Dessi, S  Mandas, A 
Citation: Lai ME, etal., Acta Haematol. 2011;126(2):87-94. doi: 10.1159/000327252. Epub 2011 May 11.
RGD ID: 11051969
Pubmed: PMID:21576933   (View Abstract at PubMed)
DOI: DOI:10.1159/000327252   (Journal Full-text)

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-1alpha 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
beta thalassemia  IEP 11051969mRNA:decreased expression:blood and mononuclear cellRGD 
beta thalassemia  ISOIL1A (Homo sapiens)11051969; 11051969mRNA:decreased expression:blood and mononuclear cellRGD 

Objects Annotated

Genes (Rattus norvegicus)
Il1a  (interleukin 1 alpha)

Genes (Mus musculus)
Il1a  (interleukin 1 alpha)

Genes (Homo sapiens)
IL1A  (interleukin 1 alpha)


Additional Information