Wilson's disease presenting as haemolytic anaemia and its successful treatment with penicillamine and zinc

Abstract

Haemolysis is an uncommon first manifestation of Wilson's disease. We describe a young woman who presented with episodic haemolysis and abnormal liver functions; the diagnosis of Wilson's disease was not made until nine months later. She responded well to a combination of penicillamine and zinc. This report underscores the importance of considering Wilson's disease as a cause in a patient with haemolysis of uncertain aetiology, since the disease can be successfully treated in the early stages. The mechanism of oxidative damage to erythrocytes by the excessive copper and the present role of zinc therapy are also discussed.