• 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] .
- To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation.~- To detect the prevelence of the mutation among Assiut University Hospital patients.~- Phenotype/genotype correlation of the mutation.