Peripheral Neuropathy and Cognitive Impairment in Adult Thalassaemia: Prevalence, Risk Factors and Quality of Life—A Cross‐Sectional Analysis

Background Thalassaemia patients are experiencing neurological complications as survival improves with advanced treatment. However, thalassaemia‐associated peripheral neuropathy (ThalPN) and cognitive impairment (CogImp) prevalence and clinical determinants among adult thalassaemia patients remain unknown. Methods This cross‐sectional study included adult thalassaemia patients from two major Malaysian centres. CogImp psychiatric patients were excluded. The validated neuropathy symptom score (NSS) and neuropathy disability score (NDS) were used to measure ThalPN, with a total neuroscore (TNS) of ≥ 8 indicating ThalPN. Patients who agreed to a nerve conduction study (NCS) were tested. Cognitive function was assessed using the Malay Montreal Cognitive Assessment (MoCA‐M), with education‐adjusted scores of < 22 indicating CogImp. Health‐related quality of life (HRQOL) was measured using EQ‐5D‐3L. The relationship with risk factors was analysed using logistic regression. Results The cohort comprised 118 transfusion‐dependent thalassaemia and 59 non‐transfusion‐dependent thalassaemia patients with a median age of 30 years (range: 18–66 years). ThalPN prevalence was 24.9%, mostly subclinical (17.5%). Of the 21 NCS patients, only three exhibited abnormal results. CogImp prevalence was 11.9%. Older age independently predicted higher neuropathy scores ( β = 0.082, 95% CI 0.022–0.142, p = 0.008). Diabetes mellitus ( β = −8.07, p = 0.010) and splenectomy ( β = −1.43, p = 0.022) independently predicted worse cognitive scores. Ferritin levels and transfusion dependence were not significantly associated with ThalPN or CogImp. ThalPN severity categories progressively worsened HRQOL ( p = 0.015). A significant discrepancy existed between patient‐reported symptoms in NSS versus objective clinical indicators, NDS. Conclusions The neurological burden among thalassaemia patients is profound, and the discrepancy between indicators and symptoms suggests small fibre involvement. These findings support the recommendation of neurological screening with thalassaemia treatment. Multicentre, longitudinal studies are needed to evaluate neurological development and validate findings across patient groups.