title: Craniofacial manifestations of β-thalassemia major.
abstract: Hemoglobinopathies are by far the most common genetic diseases, affecting millions worldwide with a prevalence for natives of Iran, Southeast Asia, and the Caspian Sea, as part of the so-called Thalassemia Belt, and an overall incidence ranging approximately from 3 to 100 patients per 100,000 population. β-Thalassemia major is of particular significance, providing bad outcomes despite aggressive therapeutic approaches. We report a case of β-thalassemia in a 5-year-old Persian boy who presented with classical diagnostic features of the disease and who did not survive despite an aggressive management approach. A review of the clinical, radiographic, laboratory, and therapeutic characteristics as well as diagnostic tests of this disease is also presented. The multifactorial challenges that face clinicians in the management of this serious disease are also reviewed.
authors.affiliation: University of the Pacific, School of Dentistry, San Francisco, CA, USA.
authors.forename: Bahram
authors.initials: B
authors.lastname: Javid
authors.affiliation: ODRP, School of Dentistry, Head and Neck Pathology, School of Medicine, Loma Linda University Medical Center, Loma Linda, CA, USA. Electronic address: nsaid@llu.edu.
authors.forename: Nasser
authors.initials: N
authors.lastname: Said-Al-Naief
mesh_terms: D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology*; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed; D017086:beta-Thalassemia / Q000150:complications*