Myopathological findings in thalassemia major

Eur Neurol. 1990;30(6):324-7. doi: 10.1159/000117365.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Atrophy
  • Electromyography
  • Female
  • Ferritins / blood
  • Humans
  • Male
  • Muscles / pathology*
  • Muscles / physiopathology
  • Neural Conduction / physiology
  • Thalassemia / blood
  • Thalassemia / pathology*
  • Thalassemia / physiopathology
  • Vitamin E / blood

Substances

  • Vitamin E
  • Ferritins