Management of the thalassemia-induced skeletal facial deformity: Case reports 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

“…Researchers found that thalassemia was attributable to a partial autosomal dominant gene for which the homozygous state was termed thalassemia major and the heterozygous state, thalassemia minor. Thalassemia intermedia was a term used to describe disorders less severe than major forms but more severe than minor forms [5]. In 1965 Adelman [6] described orthodontic management in a 7-year-old patient with thalassemia major and in 1969, Jurkiewicz [7] first reported orthognathic surgical management on a 6-year-old boy and his younger sister with, b thalassemia trait.…”

“…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].…”

“…These syndromes have been found in almost every ethnic group and geographic location; however, they are most common in the Mediterranean basin and equatorial regions of Asia and Africa [5].…”

“…It is primarily deposited within the parenchyma of the liver and heart, leading to hemochromatosis. Cardiomyopathy, cirrhosis, endocrine dysfunction and hypercoagulable state are the end result of these processes [5,13].…”

“…Thus, many thalassemia patients are short. Cortical thinning may cause compression fractures of the vertebrate and subsequent neurologic deficits [5].…”