Neurological complications in β-thalassemia

Over the years, several reports have demonstrated involvement of the nervous system in β-thalassemia patients. Neurological complications have been attributed to various factors such as chronic hypoxia, bone marrow expansion, iron overload, and desferrioxamine neurotoxicity. In most cases, neurological involvement does not initially present with relevant signs or symptoms (i.e., is subclinical) and can only be detected during neurophysiological or neuroimaging evaluation. Abnormal findings in the visual, auditory, and somatosensory evoked potential recordings are mainly attributed to DFO neurotoxicity. On the other hand, nerve conduction velocity abnormalities are associated either to chronic hypoxia and older age or to hemosiderosis, whether by means of pancreas involvement or not. Neuropsychological studies available reveal a considerably high prevalence of abnormal IQ, not correlating, however, to factors such as hypoxia or iron overload. It is proposed that factors associated to severe chronic illness, rather than the disease per se, could be responsible for these findings. Such factors include regular school absence due to transfusions and frequent hospitalizations, physical and social restrictions resulting from the disease and its treatment, abnormal mental state due to the awareness of being chronically ill, and, last, the overly protective family attitude that leads to restricted initiative and psychosocial development. As life expectancy for β-thalassemia patients extends, the use of neurophysiologic and neuropsychologic monitoring becomes imperative, enabling early detection of neural pathway impairment and allowing for appropriate management, in order to achieve a better life quality for this patient group.