The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients
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-110 (G>A) [HBB:c.93-21G˃A] 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
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The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016)
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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 .
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The mechanism of this mutation depends on formation of a new splicing site resulting in 80% abnormal spliced mRNA and 20% normal mRNA .
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The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and in prenatal diagnosis.
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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 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 Design
Outcome Measures
Primary Outcome Measures
- Introduction of arms pcr in diagnosis . [2 years]
To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation
- Database initation . [2 years]
Initiating database of haemoglobinopathesis by registering data.
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
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Faculty of Medicine Assiut University | Assiut | Egypt |
Sponsors and Collaborators
- Assiut University
Investigators
- Study Director: Ola Afifi, Assiut University
Study Documents (Full-Text)
None provided.More Information
Publications
- El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients. Hemoglobin. 2007;31(1):63-9.
- Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM. β-Globin Mutations in Egyptian Patients With β-Thalassemia. Lab Med. 2015 Winter;46(1):8-13. doi: 10.1309/LM1AYKG6VE8MLPHG.
- El-Shanshory M, Hagag A, Shebl S, Badria I, Abd Elhameed A, Abd El-Bar E, Al-Tonbary Y, Mansour A, Hassab H, Hamdy M, Alfy M, Sherief L, Sharaf E. Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. Mediterr J Hematol Infect Dis. 2014 Nov 1;6(1):e2014071. doi: 10.4084/MJHID.2014.071. eCollection 2014.
- Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, May A, Khalil MS, Schuh A, Old J. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009 Dec;42(18):1745-56. doi: 10.1016/j.clinbiochem.2009.05.012. Epub 2009 Jun 1.
- Kurtoğlu A, Karakuş V, Erkal Ö, Kurtoğlu E. β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study. Hemoglobin. 2016 Nov;40(6):392-395. doi: 10.1080/03630269.2016.1256818. Epub 2017 Mar 3.
- Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. Review.
- Soliman OE, Yahia S, Shouma A, Shafiek HK, Fouda AE, Azzam H, Abousamra NK, Mahfouz R, Goda EF, El-Sharawy SA. Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt. Hematology. 2010 Jun;15(3):182-6. doi: 10.1179/102453310X12583347010214.
- β thalassemia gene mutation