Ferroportin disease: A systematic meta-analysis of clinical and molecular findings☆

@inproceedings{Mayr2010FerroportinDA,
  title={Ferroportin disease: A systematic meta-analysis of clinical and molecular findings☆},
  author={Roman Mayr and Andreas R Janecke and Melanie Schranz and William J Griffiths and Wolfgang Vogel and Antonello Pietrangelo and Heinz Zoller},
  booktitle={Journal of hepatology},
  year={2010}
}
BACKGROUND & AIMS Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes. The aim of the… CONTINUE READING