Hereditary haemochromatosis due to hepcidin resistance

Hereditary haemochromatosis (HH) is a genetic disease associated with iron overload. HH can be caused by gain-of-function mutations in the ferroportin gene. In this case report, a 19-year-old male was suspected of HH due to elevated ferritin levels and transferrin saturation. Genetic testing revealed a novel mutation, V63I, in the ferroportin gene. The mutation was also identified in three relatives of which two were diagnosed with HH. The mutation was assumed to be of clinical relevance as no other mutations associated with HH were identified in the family.