Thalassemia diagnosed through facial distortion

Thalassemia is an inherited genetic disorder of hemoglobin synthesis characterized by a reduction of either alpha or beta chains of globin. Typical features of patients with thalassemia are skeletal modifications, particularly in the skull and in the malar bone. This report describes a patient who was originally found to have an oro-facial deformity and subsequently demonstrated clinical and laboratory findings consistent with those recorded for thalassemia intermedia.