Egyptian Journal of Medical Human Genetics (Dec 2023)

Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study

  • Esraa Elmorsi Abdelaziz Elderini,
  • Amira Mohamed ELTohamy,
  • Mona Hassan EL-Tagui,
  • Mariam Saad Nassim

DOI
https://doi.org/10.1186/s43042-023-00458-2
Journal volume & issue
Vol. 24, no. 1
pp. 1 – 8

Abstract

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Abstract Background Thalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalassemia. Numerous organs and bodily systems could be impacted by thalassemia, particularly the nervous system, which could impede cognitive performance. The study aimed to assess cognitive abilities of pediatric patients diagnosed with beta thalassemia major and intermedia. Patients and methods A total of 168 participants [54 β-thalassemic major children, 51 with β-thalassemia intermedia and 63 age-matched healthy controls from both genders (85 girls and 83 boys)] with age ranging from 8 to 16 years were participated in a cross-sectional study. Cognitive function was evaluated for all children by using the Wechsler Intelligence Scale For Children 4th edition. Results Compared with control group, a significant decline was found in all Wechsler Intelligence Scale subtests as well as in verbal comprehension index, perceptual reasoning index, working memory index, processing speed index and full scale index scores of thalassemia major and intermedia patients (p < 0.001). When compared to children with thalassemia intermedia, the beta thalassemic major children showed a significant decrease in all Wechsler Scale subtests as well as in all its five index scores (p < 0.001). Conclusions The study concluded that thalassemia negatively affects and impairs cognition and intellectual capacities.

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