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

Beta-Thalassemia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05370677
• Other study ID #: thalassemia mutation
• Status: Not yet recruiting
• Start date: May 2022
• Est. completion date: December 2024

Study information

• Verified date: May 2022
• Source: Assiut University
• Contact: Fatma Elzahraa Mohamed Abd Elrady
• Phone: 01099696566
• Email: fattmamohamedabdelrady[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation.

2. - To detect the prevelence of the mutation among Assiut University Hospital patients.

3. - Phenotype/genotype correlation of the mutation.

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).

• 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] .

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 141
• Est. completion date: December 2024
• Est. primary completion date: September 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• : ß 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

Related Conditions & MeSH terms

• Beta-Thalassemia
• Thalassemia

Intervention

Genetic:
• ARMS
amplification refractory mutation system

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assiut University

References & Publications (4)

Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. Review. — View Citation

Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine ß-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. — View Citation

Kumar R, Sagar C, Sharma D, Kishor P. ß-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. — View Citation

Origa R. ß-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	teaching purpose	teaching purpose	2 years