Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload

Abstract

We analyzed the hepcidin gene in 10 Italian patients with hemochromatosis not related to C282Y, H63D or other less frequent HFE mutations, nor to Y250X in TFR2. The sequencing of the whole hepcidin coding region, intron-exon junctions, 5' and partially 3'UTRs, did not reveal any alteration in the studied patients.