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.
D002648:Child; D005146:Facial Asymmetry / Q000209:etiology*; D005147:Facial Bones / Q000473:pathology; D005260:Female; D006801:Humans; D008437:Maxilla / Q000473:pathology; D013789:Thalassemia / Q000150:complications / Q000175:diagnosis*