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 Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

141 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-05-31

Study Completion Date

2024-12-31

Brief Summary

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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.

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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 \[ARMS\] .

Conditions

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Beta-Thalassemia

Study Design

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Observational Model Type

OTHER

Study Time Perspective

CROSS_SECTIONAL

Interventions

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ARMS

amplification refractory mutation system

Intervention Type GENETIC

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No