An unusual association

Key words: Microcytic anaemia, Hyperferritinaemia, Cataract, Ferritin levels

A 3-year-old boy presented with microcytic anaemia and hyperferritinaemia, in the absence of signs of iron overload. Once the main gastroenterological, rheumatological, haematological and infectious causes had been ruled out, despite the absence of symptoms, ocular abnormalities were checked in the suspicion of genetic hyperferritinaemia. The ophthalmological examination showed an initial bilateral lens opacity, supporting the suspicion of hyperferritinaemia-cataract syndrome that was subsequently confirmed by genetic investigation. Hyperferritinaemia-cataract syndrome is a condition characterised by increased serum ferritin levels and bilateral congenital cataracts due to mutations (usually autosomal dominant) involving the ferritin gene. In the presence of isolated hyperferritinaemia unexplained by other causes, genetic causes, sometimes associated with ocular diseases, must therefore be considered.