Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease.

Abstract excerpt

Ferroportin disease is an autosomal dominant form of hemochromatosis associated with siderosis in cells of the mononuclear phagocyte system and, to varying degrees, in hepatocytes. Ferroportin was investigated as a candidate gene in two pedigrees with hyperferritinaemia and siderosis in mononuclear phagocytes. The entire ferroportin coding region was sequenced and hepatic iron concentration, histology and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cation Transport Proteins
• Share to Ferroportin