Article
Iron chelation with deferasirox in a patient with de-novo ferroportin mutation.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Apr 2015
Unal Sule, Piperno Alberto, Gumruk Fatma
Abstract excerpt
Ferroportin disease is a rare type of autosomal dominantly inherited hemochromatosis caused with mutations in the ferroportin gene (SLC40A1). The patients characteristically have hyperferritinemia but normal transferin saturations. Herein, we present a 15-year-old female whose chief complaint was persistent nausea for the last one year. Extensive work-up including brain imaging revealed nothing to explain the...
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