Thesis (Ph.D.) - Cairo University - Faculty of Science - Department of Biochemistry

This work was carried out to investigate the role of Neopterin and GSTM1 polymorphism in prognostic Ý-thalassemia, also to detect the correlation between GSTM1 null genotype and appearance cardiac complications in Ý-thalassemia. Methods: This study was divided to three groups (group I: 20 healthy subjects, group II: 56 Ý-thalassemic patients, group III: 16 Ý-thalassemic patients with cardiac complications). The human neopterin and cytokines were determined by ELISA method, while the measurement of human hs-CRP and Immunoglobulins were performed using nephelometry. GSTM1 genotype was detected by PCR and cardiac complications were determined by Echocardiograph. Results: There were statistically significant increases in Neopterin, IL-6, TNF-Ü, IgA, IgG, IgG subclasses (1, 2, 3 & 4) and hs-CRP levels, but statistically insignificant difference in IL-4 and IgM in Ý- thalassemic patients compared to normal subjects. Results showed no relation between GSTM1 null genotype frequency and Ý-thalassemia or cardiac complications appearance. Also results showed that LV diastolic function was significantly impaired in cases with GSTM1 null genotype in group III. Conclusion: Neopterin can be used as a marker for complications of inflammation and infection in Ý-thalassemia. GSTM1 null genotype frequency has no role in beta-thalassemia or cardiac complication appearance. GSTM1 null genotype has a role in cardiac iron overload and impairing of left ventricular diastolic function

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