Free cholesterol is a constituent of cell membranes. Apart from nucleus-free erythrocytes, all cells of the human body are able to synthesise cholesterol de novo. More than 100 enzymatic processes are involved in the complete biosynthesis of cholesterol, which is a complex and energy-consuming process.For this reason, several tissues prefer to assume cholesterol from plasma lipoproteins rather than from their own intracellular synthesis.Cholesterol devoted to plasma lipoprotein is synthesised in the liver and in the distal part of the small intestine.1 Chylomicron remnants are the vehicle of cholesterol intake from the diet to the liver. The hepatic cholesterol pools originating from chylomicron remnants and de novo synthesised cholesterol are combined and excreted as verylow-density lipoprotein (VLDL). Low-density lipoprotein (LDL), the ultimate catabolic product of VLDL, is the main source of cholesterol for human tissue, especially those with high cell turnover. Cholesterol is not only a fundamental element of cell membranes but also the principal precursor for steroid and sexual hormone biosynthesis. Furthermore, cholesterol, through its intermediary products such as farnesyl diphosphate and geranylgeranyl diphosphate, is involved in the regulation of ras-protein intracellular signal transduction.1
Hypercholesterolaemia in ThalassaemiaA large body of evidence from prospective and retrospective studies has clearly shown that patients affected by thalassaemia have reduced levels of TC with respect to healthy age-and sex-matched controls.
3-10Hypocholesterolaemia has been reported in all phenotypes of β-thalassaemia and has also been described in various haematological disorders associated with high erythropoietic activity.11-14 Table 1 shows cholesterol levels found in different reports exploring lipid profiles in young and adult patients affected by all phenotypes of thalassaemia.The majority of these studies have evaluated cholesterol level in young patients with severe thalassaemia (thalassaemia major and intermedia). As shown in Table 1, low levels of plasma cholesterol are evident among all ages of patients with thalassaemia major and intermedia.Almost all studies agree with the observation that of all the forms of thalassemia, thalassaemia intermedia patients show the most marked alterations in lipid profile. Conversely, no studies have identified a cholesterol cut-off value that could clearly distinguish patients with thalassaemia intermedia from those affected by thalassaemia major.Furthermore, hypocholesterolaemia is only one aspect in the more complex alteration of lipid profile involving LDL and HDL level observed in all thalassemia patients. In fact, most of the abovementioned studies reported that thalassaemia patients also have lower HDL and LDL levels than those observed in control patients.Many of these studies have also tried to identify within-patient factors correlating with cholesterol level; 4,8,9 data analysis of most reported studies failed to show any influence on cholesterol level of a...