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Blood, 15 November 2007, Vol. 110, No. 10, pp. 3780-3783. Prepublished online as a Blood First Edition Paper on August 28, 2007; DOI 10.1182/blood-2007-07-100248.
Submitted July 9, 2007
Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT * Corresponding author; email: jerry.kaplan{at}path.utah.edu.
The term hemochromatosis represents a group of inherited disorders leading to iron overload. Mutations in HFE, HJV and TfR2 cause autosomal recessive forms of hemochromatosis. Mutations in Ferroportin, however, result in dominantly inherited iron overload. Some mutations (H32R, N174I) in ferroportin lead to macrophage iron loading while others (NI44H) lead to hepatocyte iron loading. Expression of H32R or N174I ferroportin cDNA in zebrafish leads to severe iron-limited erythropoiesis. Expression of wild type ferroportin or hepcidin resistant ferroportin (N144H) does not affect erythropoiesis. Zebrafish provides a facile way of identifying which ferroportin mutants may lead to macrophage iron loading.
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