%0 Journal Article %J Gastroenterology Review/Przegląd Gastroenterologiczny %@ 1895-5770 %V 9 %N 5 %D 2014 %F Raszeja-Wyszomirska2014 %T Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene %X In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man (OMIM) database. Ferroportin disease represented a rare type of HH, with autosomal dominant trait of inheritance. In our patient we detected a novel mutation in the ferroportin gene, with non-classical phenotype. %A Raszeja-Wyszomirska, Joanna %A Caleffi, Angela %A Milkiewicz, Piotr %A Pietrangelo, Antonello %P 307-309 %9 journal article %R 10.5114/pg.2014.46167 %U http://dx.doi.org/10.5114/pg.2014.46167