Study on Large-Scale Brain Network Abnormalities in Patients With Beta-Thalassemia.

Background: Beta-thalassemia major (β-TM) is a hereditary blood disorder characterized by chronic anemia and hypoxia, which may have profound effects on brain function. This study systematically evaluates alterations in both intra-brain network functional connectivity (FC) and inter-network functional connectivity (FNC) in β-TM patients using resting-state functional magnetic resonance imaging (rs-fMRI) and independent component analysis (ICA), aiming to uncover the potential mechanisms underlying their neurofunctional impairments.

Methods: This study included 72 β-TM patients and 50 age- and gender-matched healthy controls (HC). rs-fMRI was used to collect brain functional data, and ICA was applied to extract 14 resting-state functional networks (RSNs). Differences in FC within networks and FNC between the two groups were further compared to investigate the brain network abnormalities in β-TM patients.

Results: In β-TM patients, FC within brain networks was significantly reduced in the anterior default mode network (aDMN), posterior default mode network (pDMN), left frontoparietal network (lFPN), right frontoparietal network (rFPN), ventral attention network (VAN), and executive control network (ECN). In contrast, FC was significantly increased in the dorsal sensorimotor network (dSMN) and posterior visual network (pVN). FNC analysis revealed that β-TM patients exhibited enhanced connectivity between the lFPN and rFPN, as well as between the dorsal attention network (DAN) and VAN. However, connectivity was significantly weakened between the DAN and lFPN, ECN, auditory network (AN), and salience network (SN); as well as between the pVN and dSMN. These findings suggest impairments in cognitive control, attention allocation, and sensory integration, with specific disruptions in the SN that may contribute to the observed dysfunctions.

Conclusions: Brain network abnormalities in β-TM patients manifest as an alternating pattern of enhanced and weakened connectivity, revealing the profound impact of chronic anemia and hypoxia on cognitive, emotional, and sensory functions.