The effect of transferrin polymorphisms on iron metabolism

The effect of five different transferrin variants (TFv1, TFv2, TFv3, TFv4, and TFv5) on the hemoglobin level, mean corpuscular volume (MCV), ferritin level, percent transferrin saturation (%TS), and the unsaturated iron bindi ng capacity (UIBC) was investigated in subjects with defined HFE haplotypes , 919 persons undergoing health screening and 113 patients with clinical he mochromatosis. The most common variant is TFv4; the population distribution of this variant was also studied. None of the variants were found to have an effect on any of the parameters of iron metabolism that were investigate d. Moreover, the frequency of these variants in patients with clinically si gnificant hemochromatosis was no different from that in the general populat ion. We conclude that these polymorphisms in transferrin do not play a role in the expression of hemochromatosis, nor do they produce any other signif icant changes in iron metabolism.