Study of neuromuscular functional changes in Egyptian children with beta thalassemia major

Background Neuromuscular changes are common in beta thalassemia major (BTM) patients, impacting quality of life due to factors like chronic hypoxia, iron overload, deferoxamine, and neurotoxicity. Aim This study aimed to evaluate the possible pathophysiological neuromuscular changes in Egyptian children with beta thalassemia and correlate these changes with laboratory markers and treatment protocols. Patients and methods This retrospective cohort study included 30 BTM patients (10–18 years, both sexes) dependent on transfusions, divided into two equal groups based on compliance with chelation therapy, and 15 healthy volunteers as controls. Electrophysiological tests, including nerve conduction and electromyography (EMG), were performed on all patients. Results There were significant results in nerve conduction findings and its relation to the age, duration since diagnosis, neurological symptoms (easy fatiguability), serum ferritin, lactate dehydrogenase (LDH), creatine phosphokinase (CPK), and these results were significantly higher in group II (incompliant group). Similarly, EMG findings were significantly associated with age, duration since diagnosis, neurological signs (muscle twitching), serum ferritin, LDH, and CPK, also found to be significantly higher in group II (incompliant group). Those experiencing muscle pain, numbness, easy fatigability, and muscle twitches also had significantly elevated CPK and LDH levels. Conclusion BTM children with older age, longer duration of disease, and higher level of serum ferritin, LDH, and CPK were found to have more neuromuscular abnormalities as evidenced by the abnormal nerve conduction study and EMG results, and that was related to high transfusion frequency, iron overload, and deferoxamine toxicity.