Haemolytic anaemia as a first sign of Wilson's disease

Abstract

A 19-year-old female presented with haemolytic anaemia and subsequently developed liver failure. This raised suspicion of Wilson's disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level, raised 24-hour urinary copper excretion and two mutations in the 'Wilson gene'. She was successfully treated with D-penicillamine and zinc. In young patients with unexplained haemolysis, liver dysfunction or neuro-psychiatric symptoms, Wilson's disease should be considered.