The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients

Overview

* To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-110 (G\>A) \[HBB:c.93-21G˃A\] mutation. * To detect the prevelence of the mutation among Assiut University Hospital patients. * Phenotype/genotype correlation of the mutation.

* The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016) * These mutations are regionally specific and the spectrum of mutations has been determined for most at-risk populations. The strategy for identifying β-thalassaemia mutations is usually based on knowledge of the common mutations in the ethnic group of the individual being screened (Old JM, 2007). The β globin gene mutation \[HBB:c.93-21G˃A\] or IVS I-110 (G\>A) is the most common β globin gene mutation in the Mediterranean region (Old JM, 2007). . There is no consensus about the % of the mutation among β thalassemic patients in Egypt \[has been reported (25.8%) by El-Gawhary et al. 2007, (33.75%) by Soliman et al. 2010, (48%) by El-Shanshory et al. 2014, (22%) by Elmezayen et al. 2015 and (34%) by Elhalfawy et al. 2017\]. According to the HbVar site, it represents 33% of the β globin gene mutations in the Egyptians. 28.5% according to Henderson S ,et al 2009 . * The mechanism of this mutation depends on formation of a new splicing site resulting in 80% abnormal spliced mRNA and 20% normal mRNA . * The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and in prenatal diagnosis. * The amplification-refractory mutation system (ARMS) is a simple method for detecting any mutation involving single base changes or small deletions. * The DNA is analyzed after amplification by PCR for Detection of point mutation IVS I-110 (G\>A) by Using primer pairs that only amplify individual alleles.

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