Frataxin expression in reticulocytes of non-splenectomized and splenectomized patients with HbE-β-thalassaemia

A previous report revealed that thalassaemic patients with transfusional iron overload developed oxidative stress. The aims of this study were to investigate the FXN mRNA levels in the reticulocytes of patients with HbE-beta-thalassaemia who were treated with regular transfusions, to compare the results with those from normal controls and to evaluate the relationships of the levels of FXN mRNA with malondialdehyde (MDA) and iron parameters in these patients.

The levels of FXN mRNA in the reticulocytes of patients (30 non-splenectomized and 30 splenectomized) and 30 normal individuals were assessed by RT-PCR. The levels of MDA and the transferrin saturations (TSs) were analysed with thiobarbituric acid-reactive substance assay and spectrometry, respectively. The level of ferritin was determined by ELISA.

The levels of FXN mRNA, MDA, ferritin, and TS in the patients were significantly higher than those in the controls. The levels of FXN mRNA, MDA, and ferritin in the non-splenectomized and splenectomized patients were significantly different, but the levels of TS in these two patient groups were comparable. The relative FXN expression in the patients was found to be correlated with the levels of MDA and ferritin but not correlated with TS.

The elevation of FXN expression in the reticulocytes of these patients seems to be linked to oxidative stress and iron status.