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

January 30, 2023 updated by: Amira Saber Hamed Ahmed, Assiut University

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

  • 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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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

Enrollment (Anticipated)

150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Mohamed Samir

Study Locations

  • Egypt
      • Assiut, Egypt
        • Recruiting
        • faculty of medicine Assiut university
        • Contact:
          • Mohamed Samir
          • Phone Number: 01015484723

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Assiut University Hospitals patients

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Introduction of arms pcr in diagnosis .
Time Frame: 2 years
To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation
2 years
Database initation .
Time Frame: 2 years
Initiating database of haemoglobinopathesis by registering data.
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assiut University

Investigators

  • Study Director: Ola Afifi, Assiut University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 30, 2023

Primary Completion (ANTICIPATED)

June 1, 2024

Study Completion (ANTICIPATED)

October 1, 2024

Study Registration Dates

First Submitted

November 3, 2021

First Submitted That Met QC Criteria

November 12, 2021

First Posted (ACTUAL)

November 24, 2021

Study Record Updates

Last Update Posted (ACTUAL)

January 31, 2023

Last Update Submitted That Met QC Criteria

January 30, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • β thalassemia gene mutation

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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