The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals

• The β-thalassaemias result from 300 gene mutations ( https://globin.bx.psu.edu ).

All of the mutations are regionally specific and the spectrum of mutations has now been determined for most at-risk populations(Old JM, 2007).

• The strategy for identifying β-thalassaemia mutations is usually based on the knowledge of the common and rare mutations in the ethnic group of the individual being screened.(Old JM, 2007) .
• In Mediterranean it represnts 8-15%
• In Africa it represnts 3.5%
• In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ).
• The β globin gene mutation IVS I-6(T>C) is the First most common β globin gene mutation among Egyptians
• (36.3%) according to ( Somaia El-Gawhary et al 2007 )
• (27.66%) ( Ammar D. Elmezayen et al 2015 )
• and the second most common mutation
• (40%) according to ( El-shanshory M et al 2014)
• (21.25%) ( Elhalfawy et al 2017) The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and to offer 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 analysed after amplification by PCR for Detection of point mutation IVS I-6(T>C) by Using primer pairs that only amplify individual alleles [ARMS] .