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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Beta-Thalassemia
• Intervention / Treatment: Genetic: ARMS

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).

• 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] .

• Study Type: Observational
• Enrollment (Anticipated): 141

Contacts and Locations

• Study Contact: Name: Fatma Elzahraa Mohamed Abd Elrady; Phone Number: 01099696566; Email: fattmamohamedabdelrady@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

around 141 (suspected & clinically diagnosed cases).

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Cross-Sectional

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Assiut University

Publications and helpful links

General Publications

• Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
• Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.
• Kumar R, Sagar C, Sharma D, Kishor P. beta-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.
• Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine beta-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.

Study record dates

Study Major Dates

• Study Start (Anticipated): May 1, 2022
• Primary Completion (Anticipated): September 1, 2024
• Study Completion (Anticipated): December 1, 2024

Study Registration Dates

• First Submitted: May 7, 2022
• First Submitted That Met QC Criteria: May 10, 2022
• First Posted (Actual): May 11, 2022

Study Record Updates

• Last Update Posted (Actual): May 11, 2022
• Last Update Submitted That Met QC Criteria: May 10, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Thalassemia; beta-Thalassemia
• Other Study ID Numbers: thalassemia mutation

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No