Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families

What is it about?

Hereditary Hyperferritinemia-Cata¬ract Syndrome (HHCS) is a rare disorder and a differential diagnosis in hyperferritinemia. In contrast to hereditary hemochromatosis HHCS reveals normal transferrin saturation and a family history of bilateral infantile or juvenile cataract. HHCS is often diagnosed when phlebotomy leads to anemia without correction of hyperferritinemia. This study presents 6 German families with HHCS.

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