Thesis (M.Sc.)-Cairo University, 2023.

Bibliography: pages 118-140.

β-Thalassemia major continues to be a major cause of
morbidity and mortality with improving outcome due to advances in
researches and treatments. This study was designed to detect the
association of the antioxidant enzyme Super Oxide Dismutase 2 (SOD2)
Val16Ala (rs4880) genetic polymorphism with cardiac problems in
Egyptian children with β-Thalassemia major.
Results: A total number of 60 pediatric patients with β-Thalassemia
major with age ranged from 8-18 years were genotyped for the SOD2
Val16Ala (rs4880) polymorphism. Also, Echocardiography study was done
to them to assess cardiac problems related to contractility and chambers
size. LVEDD: was high in 10 (38.5%) patients, 8 (26.7%) patients and 2
(50.0%) patients with means 46.12 ± 4.55, 46.97±5.77, 48.50 ±7.51
respectively for AA, AG and GG groups, LVESD: was high in 10 (38.5%)
patients, 8 (26.7%) patients and 2 (50.0%) patients with means of
30.69±4.69, 29.40±6.53, 32.0±7.16 respectively for AA, AG and GG
groups, IVSD: was high in 10 (38.5%) patients, 10 (33.3%) patients and 3
(75%) patients respectively with means 0.83±0.19, 0.84±0.23, 0.98±0.17
for AA, AG and GG groups, LVPWT: was high in 17 (65.4%) patients, 16
(53.3%) patients and 4 (100%) patients respectively with means
0.83±0.19, 0.80 ± 0.15, 1.09±0.25 for AA, AG and GG groups. Regarding
cardiac function: EF was low only in 1 (3.8%) patient in AA group, E/A
ratio: was low only in 1 (25%) patient in GG group. Results showed no
association between SOD2 Val16Ala (rs4880) genetic polymorphism and
cardiac problems with a P-value > 0.05.

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