Abstract

Over an 11 year period, the diagnosis of haemoglobin-H (Hb-H) disease was missed in a Caucasian woman of British stock who first presented with microcytic hypochromic anaemia at the age of 81. The diagnosis was confirmed at the age of 92, when the typical inclusions of Hb-H disease were demonstrated in erythrocytes stained with brilliant cresyl blue, and the presence of Hb-H was documented by haemoglobin electrophoresis. She subsequently developed biliary obstruction due either to an inflammatory polyp associated with choledocholithiasis or ampullary carcinoma.