Thalassaemia presenting as Gaucher's disease: a case report with ultrastructural study

ABSTRACT

This is a case report of a young Iraqi male who presented with a pathological fracture of metatarsal bone, bilateral pingueculae and splenomegaly. The fracture was curetted and histological examination of the fragments showed massive collections of storage cells which together with the other two signs were regarded as the usual presenting features of Gaucher's disease. However further investigations including ultrastructural study of the storage cells proved them to be thalassaemia storage cells [TSC]. Conclusive evidence of Gaucher's disease [GD] was lacking. Reviewing the English literature we think this is the first case of thalassaemia mimicking Gaucher's disease