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

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-6 (T>C) 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 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] .

Official Title
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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

Conditions
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Beta-Thalassemia

Intervention / Treatment
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* Genetic: ARMS


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

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Genetic: ARMS|amplification refractory mutation system|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| using ARMS to detect the mutation | To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation. Initiating the department database of haemoglobinopathesis by regisptering data. | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| teaching purpose | teaching purpose | 2 years |