Neuroimaging Abnormalities in Patients With Nontransfusion-dependent Thalassemia

Independence from regular transfusions is the hallmark of nontransfusion-dependent thalassemia (NTDT). However, the associated complications need anticipation and screening. One such complication is a hypercoagulable state predisposing to development of thrombosis. We evaluated children with NTDT >10 years of age for prevalence of neuroimaging abnormalities (NIA) and identified associated risk factors. In total, 29 patients were evaluated. Blood counts, serum ferritin, protein C, protein S, antithrombin III, brain magnetic resonance imaging, and angiography was done in all patients. Possible risk factors for thrombosis or cerebrovascular disease were analyzed for association with NIA. The median age was 14 (12 to 15) years. Fifty percent were splenctomized and 31.5% were transfusion naïve. Eleven patients (37.9%) had NIA: 6 with silent cerebral infarction (SCI); 2 with cerebral arteriopathy (CA) and 3 having both CA and SCI. Higher white blood cell (WBC) count was associated with NIA (P=0.034) [silent cerebral infarction (P=0.047) and cerebral arteriopathy (P=0.067)]. Presence of 7 or more risk factors had 4.5 times greater risk of a NIA, especially silent cerebral infarction (SCI) (P=0.03). We conclude that cerebral infarction and arteriopathy seem to start in late childhood. There is a need to develop strategies for preventing neurologic complications in NTDT similar to sickle cell disease.