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

Brief 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

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

Brief 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] .
    


Study Type

Observational


Primary Outcome

using ARMS to detect the mutation

Secondary Outcome

 teaching purpose

Condition

Beta-Thalassemia

Intervention

ARMS


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

141

Start Date

May 2022

Completion Date

December 2024

Primary Completion Date

September 2024

Eligibility Criteria

        Inclusion Criteria:

          -  : β thalassemia (suspected & clinically diagnosed cases).

        Exclusion Criteria:

          -  : Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias
             other than thalassemia, other types of thalassemia and Hb variants
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, 01099696566, [email protected]



Administrative Informations


NCT ID

NCT05370677

Organization ID

thalassemia mutation


Responsible Party

Principal Investigator

Study Sponsor

Assiut University


Study Sponsor

, , 


Verification Date

May 2022