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 Details
Study Description
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.
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- To detect the prevelence of the mutation among Assiut University Hospital patients.
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- Phenotype/genotype correlation of the mutation.
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Detailed Description
• 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).
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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) .
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In Mediterranean it represnts 8-15%
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In Africa it represnts 3.5%
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In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ).
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The β globin gene mutation IVS I-6(T>C) is the First most common β globin gene mutation among Egyptians
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(36.3%) according to ( Somaia El-Gawhary et al 2007 )
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(27.66%) ( Ammar D. Elmezayen et al 2015 )
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and the second most common mutation
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(40%) according to ( El-shanshory M et al 2014)
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(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.
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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] .
Study Design
Outcome Measures
Primary Outcome Measures
- using ARMS to detect the mutation [2 years]
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.
Secondary Outcome Measures
- teaching purpose [2 years]
teaching purpose
Eligibility Criteria
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
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Assiut University
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
- Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. Review.
- Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis. BMC Med Genet. 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x.
- Kumar R, Sagar C, Sharma D, Kishor P. β-globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin. 2015;39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19. Review.
- Origa R. β-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3. Review.
- thalassemia mutation