Myopathological findings in thalassemia major.

In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.