Cephalofacial Deformities in Thalassemia Major (Cooley's Anemia)

Abstract

In a study of 138 patients with thalassemia major (homozygous \g=b\-thalassemia, Cooley's anemia), 94 presented typical cephalofacial deformities (CFDs) on clinical inspection. The patient's age and duration of clinical symptoms, the degree of anemia, and the age at onset of transfusions are important in determining the development of CFD and are correlated positively with the degree of such changes. Splenectomy performed no later than the age of four years had some beneficial effect against CFD. Cephalofacial deformities irrespective of degree implied no intellectual impairment in the patients studied. The high incidence of a proximal type of muscular disorder, which occurred only in patients with CFD suggests possible common underlying mechanisms for skeletal and muscular abnormalities. Degree of CFD was proportional in severity to several systemic abnormalities characterizing homozygous \g=b\-thalassemia.Osseous changes in thalassemia major (Cooley's anemia, homo¬ zygous /S-thalassemia) with widening of medullary cavities, atrophy and trabeculation of the spongiosa, and cortical thinning follow hyperplasia of the red marrow. This occurs in re¬ sponse to marrow overstimulation

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

“…This finding was attributed to the fact that the mandible grows slower and is being blocked by the excessive maxillary growth. The facial skeletal profile was found to correlate with the severity of the anemia [5,16]. Posterior cross-bite and severe expansion of the alveolus in all dimensions were also described [15].…”

“…The dentition is secondarily displaced by the marrow expansion. The patient will usually have protrusion, and spacing of the anterior teeth with an open bite and a Class II malocclusion [2,16]. This leads to malocclusion and speech, swallowing, and eating difficulties [5].…”

Patterns of physical growth and dental development in Jordanian children and adolescents with thalassemia major

“…They result primarily from hypertrophy and expansion of the erythroid marrow due to ineffective erythropoiesis (formation of erythrocytes). Orofacial changes in TM have described in earlier reports (4)(5)(6)(7)(8). TM patients are at high risk of dental caries (9,10) periodontal diseases (8,11) and oral infection (5,12).…”

The Effect of Blood Transfusion on Alpha EEG Activity in Thalassemic Patients

“…A higher oxygenation could also be correlated with an increase in hematocrit and blood volume. The brain dysfunction that occurs in the thalassemia patients can be prevented by chelation therapy and blood trans fusions [12,13,17], The improvement of the brain tissue oxygenation after transfusion may be reflected by the alpha rhythm attenuation detected presently. Searching for neurophysiological monitoring possibilities of the brain function in this case, as in other systematic dis eases influencing the brain function, qEEG analysis may be of great help especially when supported by other examinations (such as the neuropsychological testings).…”