[HTML][HTML] Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
R Mayr, AR Janecke, M Schranz, WJH Griffiths… - Journal of …, 2010 - Elsevier
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 analysis is to …
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 analysis is to …
