Disruptions in topographic characteristics and abnormal activity in resting-state functional magnetic resonance imaging (rsfMRI) to study the brain of school-age boys with severe hemophilia A are closely related to social conditions, according to a study recently published in Haemophilia.

The authors analyzed the rs-fMRI scans of 24 patients with hemophilia A comparing them with the scans of 25 healthy patients. Next, spontaneous brain activity parameters were determined in addition to graph-theoretical analyses of the data obtained by the rs-fMR scans at the global and regional levels, as reported by Hu et al. 

Globally, the results revealed that patients with severe hemophilia A evidenced small-worldness organization along with compactness in functional segregation and increased efficiency while visualizing an overtight connection pattern in the whole brain. Regionally, these patients had significantly increased nodal efficiency in the salience network, default mode network, and executive control network, alterations that were positively correlated with the Social Anxiety Scale for Children scores. 

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The cerebellum had the largest proportion of altered activity. This structure integrates sensation and movement, participating in learning and regulating emotion, motivation, social behavior, anxiety and depression while also coordinating complex psychological and cognitive functions. Dysfunction in the cerebellum may cause anxiety and depression.

“The activated cerebellum represents the entangling of HA children’s desire for social activities and the restriction of movement caused by negative family feedback,” the authors explained. “This is a good example indicating that the negative emotions and the excessive cognitive and protective behaviors of parents caused by their children’s chronic diseases could aggravate the negative emotional state of children, and these data suggest the importance of early detection and intervention.”

The same researchers conducted a previous study that showed alterations in the brain’s microstructure, the emotional and recognition regions in boys during puberty. These combined results could help understand early neurological alterations in hemophilic children, improving the traditional view of family support and strengthening normal school life at an early stage.

“These results promote a further understanding of underlying neurophysiological mechanisms in the intrinsic brain and improve the traditional view of family support, suggesting strengthening the necessity of early recovery of normal social and school life rather than overprotection and avoidance for children with severe HA at an early age,” the authors concluded

In brief, hemophilia A is an X-linked recessive inherited disorder due to factor VIII deficiency, which is more common in men. In China, this disease accounts for 80% to 85% of all hemophilia patients. If severe cases do not receive medical treatment in time, repeated joint muscle bleeding may occur, seriously affecting the long-term quality of life and potentially leading to death.


Hu D, Liu J, Liu G, et al. Altered brain activity and functional networks in school‐age boys with severe haemophilia A: a resting‐state functional magnetic resonance imaging study. Haemophilia. Published online May 3, 2022. doi:10.1111/hae.14567