Long term follow-up of skeletal dysplasia in thalassaemia major

We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and /or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10, The metaphyseal changes w ere mild, moderate or severe and affected all long bones, but were most pro nounced at wrists and knees. They progressed from widening of the growth pl ate and defects of metaphyseal margins to appearance of radiolucent pseudoc ystic areas and, in severe cases, of cupped, rickets-like metaphyses. The s pinal changes proceeded from osseous defects of ventral upper and lower edg es of vertebrae and biconvex contours of end-plates to platyspondyly with d ecreased vertebral body height. After DF dose reduction, metaphyseal change s regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained uncha nged or progressed. Final height was very short in patients with spondylome taphyseal lesions, short and disproportionate in patients with only spinal involvement.