Síndrome hereditario de hiperferritinemia y cataratas en una familia española con la mutación A40G (París) en el gen de la L-ferritina (FTL) asociada a la mutación H63D en el gen HFE

The HHCS must be included in the differential diagnosis of the hyperferritinemias without iron overload. In turn, hyperferritinemia must be ruled out in an early cataract. The only treatment is ophthalmological, and phlebotomies must be avoided in a false hemochromatosis diagnostic when HFE gene mutations are associated, because of the poor tolerance for causing severe anemia.