β-Thalassaemia intermedia masquerading as β-thalassaemia major.

A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of the skull revealed a classical ‘crew-cut’ appearance (figure 2), a hallmark of extramedullary haematopoiesis. Figure 1 Classical ‘Chipmunk facies’ with frontal bossing, maxillary expansion, saddle nose and depressed cranial vault. Figure 2 Sagittal view of the …