Biologie synthétique et systémique actuelle
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Molecular-biology-2018 Comprehensive Next Generation Sequencing Based Genomic Analysis of The HBB Locus

Rawabi Zahed

Hereditary diseases are common in Saudi Arabia. Such diseases include Sickle Cell Anemia and Thalassemia. Recent epidemiological studies report an alarming increase in the prevalence of hereditary blood disorders in Saudi Arabia. The majority of these positive results were in carriers of sickle-cell disease and β-thalassemia. Most of these diseases causing variants are located on chromosome 11 (p15.4) in the HBB gene. We aim to tackle the issue of haemoglobinopathy genetic testing by identifying the most frequent and rare pathogenic variant mutations in the Saudi population utilizing next generation sequencing (NGS).To identify the rare thalassemia variants, we have collected blood samples and extracted DNA of 183 transfusion dependent beta thalassemia patients.