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Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide ( FTL ) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.‐160A>G mutation was identified in the iron responsive element (IRE) of  FTL , causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema. (H epatology  2014;59:1204–1206)

Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload