TY - JOUR JO - Gastroenterology Review/Przegląd Gastroenterologiczny SN - 1895-5770 VL - 9 IS - 5 PY - 2014 ID - Raszeja-Wyszomirska2014 TI - Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene AB - 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. AU - Raszeja-Wyszomirska, Joanna AU - Caleffi, Angela AU - Milkiewicz, Piotr AU - Pietrangelo, Antonello SP - 307 EP - 309 DA - 2014 DO - 10.5114/pg.2014.46167 UR - http://dx.doi.org/10.5114/pg.2014.46167 ER -