β-Thalassemia: Medical and Surgical Considerations in Managing Facial Deformities: Case Report and Review of the Literature

Skeletal facial deformity in patients with β thalassemia major: Report of one Tunisian case and a review of the literature

“…Multiple complex genetic mutations are responsible for these three categories. More than 100 different varieties of mutations exist and are associated with the b thalassemia phenotypes [5,10].…”

“…The absence or underproduction of b-chains leads to unpaired a-chains. The a-globins by themselves are unstable and precipitate into erythroid precursors in the bone marrow, causing membrane damage and cell death [10]. As a consequence, hypertrophy of erythroid marrow in medullary and extramedullary sites takes place, causing deformities of the skull and face [9].…”

“…Evidence of marrow expansion in the skull can be seen radiographically as thickening of the diploe and elongated trabeculae, giving a ''hair on end'' appearance [10].…”

“…The major determinant for the severity of facial deformity is marrow proliferation due to chronic anemia [10]. The patient's age and duration of clinical symptoms, degree of anemia, timing of splenectomy, and the age at onset of transfusion therapy were also, important in determining the development of craniofacial deformities [17].…”

“…Preoperative preparation should be coordinated with the hematologist. The anesthesiologist also should be consulted preoperatively [10].…”