Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
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
Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease
Sign Up to like & getrecommendations! Published in 2020 at "Liver International"
DOI: 10.1111/liv.14539
Abstract: Ferroportin disease (FD) and hemochromatosis type 4 (HH4) are associated with variants in the ferroportin‐encoding gene SLC40A1. Both phenotypes are characterized by iron overload despite being caused by distinct variants that either mediate reduced cellular… read more here.
Keywords: iron export; iron overload; resistance; iron ... See more keywords
Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions
Sign Up to like & getrecommendations! Published in 2018 at "Haematologica"
DOI: 10.3324/haematol.2018.203315
Abstract: Ferroportin, a 571 amino acid cation transporter encoded by the SLC40A1 gene, is the only known human cellular iron exporter and primarily expressed in the basolateral membrane of duodenal enterocytes, macrophages, and hepatocytes.[1][1],[2][2] By regulating… read more here.
Keywords: novel mechanistic; loss function; function ferroportin; ferroportin disease ... See more keywords