Cognitive Performance in Transfusion-Dependent Adults with β-Thalassemia in Bulgaria: A Case-Control Study

Area of Science:

• Hematology
• Neuroscience
• Public Health

Background:

• Improved survival in transfusion-dependent beta-thalassemia highlights the growing relevance of adult morbidity.
• Cognitive dysfunction is an emerging concern in adults with beta-thalassemia, with limited data from Eastern Europe.
• Existing studies often use single screening tools and lack robust control for confounding factors.

Purpose of the Study:

• To investigate cognitive function in adults with transfusion-dependent beta-thalassemia compared to healthy controls.
• To assess performance across multiple cognitive domains using a comprehensive battery of tests.
• To determine the association between beta-thalassemia and cognitive outcomes, adjusting for potential confounders.

Main Methods:

• A case-control study involving 50 adults with transfusion-dependent beta-thalassemia and 30 healthy controls.
• Utilized a multi-domain cognitive battery including MoCA, MMSE, CDT, TMT-A/B, and verbal fluency tests.
• Employed unadjusted, age/sex-adjusted, and doubly robust models for robust association estimation.

Main Results:

• Patients with beta-thalassemia demonstrated significantly poorer performance on global cognition and executive/visuospatial measures.
• Lower scores were observed in MoCA and MMSE, with consistently poorer Clock Drawing Test performance.
• Slower completion times were noted for Trail Making Test B, with TMT-A also affected after weighting. Verbal fluency showed borderline significance.

Conclusions:

• Transfusion-dependent beta-thalassemia is linked to diminished cognitive performance in adults, affecting global cognition and executive/visuospatial functions.
• Findings remained consistent across various adjustment strategies, underscoring the robustness of the association.
• Routine multi-domain cognitive screening should be considered in the management of adult patients with beta-thalassemia.