Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.

The article discusses the biological concepts on the identification of mutations associated with hereditary hyperferritinemia cataract syndrome (HHCS) and hemochromatosis in a Brazilian family. It notes that the changes in the iron responsive element of the respective mRNA due to mutations on the ferritin light subunit gene can lead to constant ferritin production independent of the iron levels. It reveals that patients with HHCS can maybe misdiagnosed with hereditary hemochromatosis.