Article
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Gastroenterology - 1 Jun 2011
Mayr Roman, Griffiths William J H, Hermann Martin, McFarlane Ian, Halsall David J, Finkenstedt Armin, Douds Andrew, Davies Susan E, Janecke Andreas R, Vogel Wolfgang, Cox Timothy M, Zoller Heinz
Abstract excerpt
BACKGROUND & AIMS: Patients with ferroportin iron overload due to loss-of-function mutations in SLC40A1 have macrophage iron overload, hyperferritinemia, and normal transferrin saturation. In contrast, hepatocellular iron storage, hyperferritinemia, and increased saturation of transferrin are a distinct clinical presentation of ferroportin iron overload that results from SLC40A1 mutations that confer resistance...
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