Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
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DOI: 10.1097/mph.0000000000001301
Abstract: Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within… read more here.
Keywords: cys326phe slc40a1; phlebotomy; variant cys326phe; therapeutic phlebotomy ... See more keywords