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.

中文翻译：

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与铁调素抗性有关的铁出口减少可以解释铁转运蛋白疾病中铁超载的光谱。

铁转运蛋白疾病（FD）和4型血色素沉着病（HH4）与铁转运蛋白编码基因SLC40A1的变异有关。这两种表型均以铁超负荷为特征，尽管是由不同的变异引起的，这些变异要么介导FD的细胞铁输出减少，要么抵抗HPC4中铁调素引起的铁调素灭活。这项研究的目的是评估减少的铁出口是否也赋予铁调素抗药性，并导致与R178Q变体相关的FD中铁超负荷。