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Identification of compound heterozygosity for a rare beta-globin gene mutation, codon 15 (-T) with a common mutation IVS1-5 (G>C) by direct sequencing in a Bangladeshi patient.

Kazi Nadim Hasan1*, Md. Abdul Khaleque1, Ashish Kumar Majumder2, Md. Mizanur Rahman3, Sharif Akhteruzzaman4

*1Department of Biochemistry & Microbiology, School of Health & Life Sciences, North South University, Plot#15, Block B, Bashundhara, Dhaka-1229, Bangladesh. 2National Forensic DNA Profiling Laboratory, Dhaka Medical College, Dhaka-1000, Bangladesh. 3DNA Solution Limited. Union Heights, 55-2, Bir Uttam Kazi Nazrul Islam Avenue, West Panthapath, Dhaka-1212, Bangladesh. 4Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka-1000, Bangladesh.

ABSTRACT: Most of the beta-thalassemia cases in Bangladesh are caused by 5-7 common mutations in the beta-globin gene. The present study reports a rare mutation in compound heterozygosity with a common mutation in beta-globin gene of a thalassemic patient first time in Bangladesh. A Bangladeshi individual, born to a family of carrier mother and normal father was diagnosed with abnormal hemoglobin electrophoresis result. Sequencing analysis revealed the presence of a rare mutation caused by the deletion of a thymine at c.46 of