NCT05370677

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: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 141 (estimated)
• Sponsor: Assiut University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed 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 \[ARMS\] .

Conditions

• Beta-Thalassemia

Interventions

Type	Name	Description
GENETIC	ARMS	amplification refractory mutation system

Timeline

• Start date: 2022-05-01
• Primary completion: 2024-09-01
• Completion: 2024-12-01
• First posted: 2022-05-11
• Last updated: 2022-05-11