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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Beta-Thalassemia

Intervention / Treatment
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* Genetic: ARMS PCR


Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Genetic: ARMS PCR|ARMS PCR using primer pairs that only amplify individual alleles|

What is the study measuring?
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Primary Outcome Measures

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