Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
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.
Liver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Joanna
J
Raszeja-Wyszomirska
Division of Internal Medicine and Centre for Haemochromatosis, University Hospital of Modena, Policlinico di Modena, Modena, Italy.
Angela
A
Caleffi
Liver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Piotr
P
Milkiewicz
Division of Internal Medicine and Centre for Haemochromatosis, University Hospital of Modena, Policlinico di Modena, Modena, Italy.
Antonello
A
Pietrangelo
c.190T>Cmutation; ferroportin disease; haemochromatosis; liver cirrhosis; non-classical form