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

Beta-Thalassemia Clinical Trial

Official title: 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

Status Not yet recruiting

Clinical Trial Summary

1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation.

2. - To detect the prevelence of the mutation among Assiut University Hospital patients.

3. - Phenotype/genotype correlation of the mutation.

Clinical Trial Description

• 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] . ;

Related Conditions & MeSH terms

• Beta-Thalassemia
• Thalassemia

• NCT number: NCT05370677
• Study type: Observational
• Source: Assiut University
• Contact: Fatma Elzahraa Mohamed Abd Elrady
• Phone: 01099696566
• Email: fattmamohamedabdelrady@gmail.com
• Status: Not yet recruiting
• Start date: May 2022
• Completion date: December 2024