Assessment of Molecular pattern of Beta Thalassemia Children in El Minya Governorate (Single Center Study)

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Abstract Background Thalassemia is one of the commonest autosomal recessive disorders in Mediterranean populations and are very heterogeneous at the molecular level. Β-Thalassemia has high mutation rate and genetic modifiers. Several prevention screening programs for carrier detection and prenatal diagnosis have been proposed which its success depends on knowledge of most frequent prevalent mutations in each region. This study aims to assess molecular changes in Beta thalassemia patients and correlation of these molecular changes with their clinical outcomes. Patients and Methods The sstudy was conducted on 148 β thalassemia patients with age range of 2 -18 years living in Minya governorate. Patients were subjected to full history, clinical examination and diagnostic laboratory investigations . Results One hundred and forty-eight Egyptian children with β-thalassemia from El Minya governorate were screened for genetic mutations that are common in Mediterranean area by direct DNA sequencing. Twenty-two different mutations were studied which are the common mutation in North Africa and Mediterranean basin region. Out of these 22 mutations, nine were positive while 13 were not detected. 81% were homozygous mutations (IVS 848 59.5%, IVS 745 40%, IVS 1.1 35.1%, IVS 1.6 21.6%) while 19% were heterozygote mutations (IVS 1.110 10.8%, IVS 1.116 5.4% and IVS 2.1 2.7%). Conclusion B-Thalassemia mutation profile in El Minya governorate is totally different from those proved in other Areas in Egypt.

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