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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… Click to show full 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 iron export in FD or resistance against hepcidin‐induced inactivation of ferroportin in HH4. The aim of this study was to assess if reduced iron export also confers hepcidin resistance and causes iron overload in FD associated with the R178Q variant.
Journal Title: Liver International
Year Published: 2020
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