A case of Thalassaemia Major with Mucopolysaccharidosis

We present a case of a male infant, with Thalassaemia Major who also had facial dysmorphism suggestive of Mucopolysaccharidosis, which was detected with a urinary screening test. This is probably the first time that two rare disorders like Thalassaemia Major and Mucopolysaccharidosis have coexisted in the same patient.