Polyneuropathy and myopathy in beta-thalassemia major patients
The thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major (β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease. Patients with β-thal present polyneuropathy or myopathy at (50%). Polyneuropathy was detected in (38.9%) and myopathy in (27.8%), while polyneuropathy and myopathy were present at (16.7%) with an overlap of the diseases in 1/3 of the patients. There was not a statistically significant correlation of polyneuropathy and myopathy with age, sex, splenectomy, nor with respect to laboratory parameters, hemoglobin, and ferritin. However, there was a statistically significant correlation of polyneuropathy and myopathy with iron overload, as recorded by the magnetic resonance imaging (MRI) of the heart and the liver. Our findings suggest that iron overload plays a key role in the pathogenesis of polyneuropathy and myopathy in β-thal patients, and performing heart and liver MRI for the prediction of such lesions in an annual basis is warranted.
KeywordsPeripheral neuropathy Electromyography Thalassemia complications Nerve conduction study Neurological complications T2* MRI heart T2* MRI liver
Compliance with ethical standards
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
Conflict of interest
The authors declare that they have no conflict of interest.
- 3.Cappellini MD, Cohen A, Eleftheriou A et al. In Guidelines for the clinical management of thalassaemia, 2nd Revised Edition. Nicosia (CY): 2008Google Scholar
- 11.Barbara E. Shapiro DCP (2005) Electromyography and neuromuscular disorders. ElsevierGoogle Scholar
- 12.J. K (2013) Electrodiagnosis in diseases of nerve and muscle principles and practice. Oxford University PressGoogle Scholar
- 13.England JD, Gronseth GS, Franklin G, Miller RG, Asbury AK, Carter GT, Cohen JA, Fisher MA, Howard JF, Kinsella LJ, Latov N, Lewis RA, Low PA, Sumner AJ, American Academy of Neurology, American Association of Electrodiagnostic Medicine, American Academy of Physical Medicine and Rehabilitation (2005) Distal symmetric polyneuropathy: a definition for clinical research: report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Neurology 64(2):199–207. https://doi.org/10.1212/01.WNL.0000149522.32823.EA CrossRefPubMedGoogle Scholar
- 25.Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30(1):22–25. https://doi.org/10.1038/ng798 CrossRefPubMedGoogle Scholar