Sardinia is an Italian island where thalassemia incidence is really high. Giving the complications of atherosclerotic disease and the necessity of frequent blood transfusions for thalassemic patients, scientists from the University of Cagliari (Italy) were interested in the relationship between these two diseases.

They provided a genetic analysis of patients affected by thalassemia major or intermedia in comparison with age matched healthy controls, by checking genes involved in iron detoxification and in cholesterol metabolism. Indeed, cholesterol levels are a crucial factor to determine the atherosclerotic lesions as well as iron overload, especially in heart, is important to cause cardiovascular complications. They identified an increase of TNFa and ACAT mRNA levels, involved in iron metabolism and cholesterol metabolism, respectively and a reduction of Hepcidin and ILa. Serum iron levels were higher in patients than in control, while HDLs were lower. Since gene expression was altered in factor that had a key role in cholesterol metabolism rather than in iron homeostasis, scientists suggested that possible cardiovascular complications in patients affected by thalassemia intermedia were due, at least in part, to the occurrence of premature atherosclerotic lesions. By contrast, the role of iron overload was further confirmed in thalassemia major patients. This preliminary study allows clarifying how relationship between important diseases, such as thalassemia and atherosclerosis, may contribute to complicate the clinical profile.