Fractures and epiphyseal deformities in beta-thalassemia

Sixty-two patients with beta-thalassemia (36 men and 26 women) were investigated in a survey of the incidence and distribution of fractures. Patient ages ranged from 10 to 32 years (mean, 16.7). The examination consisted of a detailed orthopedic and roentgenographic skeletal survey. Fractures are a frequent occurrence in beta-thalassemia (Cooley's anemia). One in three patients had sustained fractures. In one of five, fractures were multiple or recurrent. The fractures, however, were not entirely responsible for the high incidence of deformities. Only one patient had a malunited limb-deforming fracture. The high incidence of deformities was caused by the premature fusion of the epiphyses of the long bones; the pathogenesis of beta-thalassemia-induced epiphyseal fusion is obscure. Thirty patients of the 62 patients developed epiphyseal abnormalities, generally in the lower tibial and fibular, upper humeral, and lower femoral epiphyses. The ensuring deformities are severe and frequently occur in patients older than 12.