These include hereditary hyperferritinemia cataract syndrome (HHCS) due to mutations in the IRE region of FTL, so-called benign hyperferritinemia due to mutations in the first exon of FTL, and ferroportin disease due to loss-of-function mutations of SLC40A1 [24,62,63]. Here, SLC40A1 is linked to isolated hyperferritinemia.