The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients

Brief Title

The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients

Official Title

The Prevelence of HBB c.93-21 G-A Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals.

Brief Summary

      -  To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of
           the IVS I-110 (G>A) [HBB:c.93-21G˃A] mutation.

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

        -  Phenotype/genotype correlation of the mutation.
    

Detailed Description

      -  The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016)

        -  These mutations are regionally specific and the spectrum of mutations has been
           determined for most at-risk populations. The strategy for identifying β-thalassaemia
           mutations is usually based on knowledge of the common mutations in the ethnic group of
           the individual being screened (Old JM, 2007).

      The β globin gene mutation [HBB:c.93-21G˃A] or IVS I-110 (G>A) is the most common β globin
      gene mutation in the Mediterranean region (Old JM, 2007). . There is no consensus about the %
      of the mutation among β thalassemic patients in Egypt [has been reported (25.8%) by
      El-Gawhary et al. 2007, (33.75%) by Soliman et al. 2010, (48%) by El-Shanshory et al. 2014,
      (22%) by Elmezayen et al. 2015 and (34%) by Elhalfawy et al. 2017].

      According to the HbVar site, it represents 33% of the β globin gene mutations in the
      Egyptians. 28.5% according to Henderson S ,et al 2009 .

        -  The mechanism of this mutation depends on formation of a new splicing site resulting in
           80% abnormal spliced mRNA and 20% normal mRNA .

        -  The molecular characterization of the globin gene mutation is necessary for definite
           diagnosis, genetic counseling, and in 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 analyzed after amplification by PCR for Detection of point mutation IVS I-110
           (G>A) by Using primer pairs that only amplify individual alleles.
    


Study Type

Observational


Primary Outcome

Introduction of arms pcr in diagnosis .


Condition

Beta-Thalassemia

Intervention

ARMS PCR


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

150

Start Date

June 1, 2022

Completion Date

October 2024

Primary Completion Date

June 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


Contacts

Ola Afifi, 01063954423, [email protected]

Location Countries

Egypt

Location Countries

Egypt

Administrative Informations


NCT ID

NCT05133388

Organization ID

β thalassemia gene mutation


Responsible Party

Principal Investigator

Study Sponsor

Assiut University


Study Sponsor

Ola Afifi, Study Director, Assiut University


Verification Date

February 2022