The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients
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|ClinicalTrials.gov Identifier: NCT05133388|
Recruitment Status : Recruiting
First Posted : November 24, 2021
Last Update Posted : January 31, 2023
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- 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.
|Condition or disease||Intervention/treatment|
|Beta-Thalassemia||Genetic: ARMS PCR|
- 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|
|Estimated Enrollment :||150 participants|
|Official Title:||The Prevelence of HBB c.93-21 G-A Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals.|
|Actual Study Start Date :||January 30, 2023|
|Estimated Primary Completion Date :||June 2024|
|Estimated Study Completion Date :||October 2024|
- Genetic: ARMS PCR
ARMS PCR using primer pairs that only amplify individual alleles
- 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
- Database initation . [ Time Frame: 2 years ]Initiating database of haemoglobinopathesis by registering data.
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|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Sampling Method:||Non-Probability Sample|
- β thalassemia (suspected & clinically diagnosed cases)
- Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05133388
|Contact: Amira Saberfirstname.lastname@example.org|
|Contact: Mohamed Samir|
|Faculty of Medicine Assiut University||Recruiting|
|Contact: Mohamed Samir 01015484723|
|Study Director:||Ola Afifi||Assiut University|
|Responsible Party:||Amira Saber Hamed Ahmed, ASHAhmed, Assiut University|
|Other Study ID Numbers:||
β thalassemia gene mutation
|First Posted:||November 24, 2021 Key Record Dates|
|Last Update Posted:||January 31, 2023|
|Last Verified:||January 2023|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Anemia, Hemolytic, Congenital
Genetic Diseases, Inborn