The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients

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

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-01-30

Study Completion Date

2024-10-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

* 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.
* To detect the prevelence of the mutation among Assiut University Hospital patients.
* Phenotype/genotype correlation of the mutation.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

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

NCT05370677

Beta-Thalassemia

UNKNOWN

Dermatological Abnormalities in Beta-thalassemia Major

NCT03894605

Beta-Thalassemia

UNKNOWN

Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter

NCT00481221

Thalassemia Iron Deficiency

UNKNOWN

Detection Of β-thalassemia Carriers In Assiut

NCT03822585

Beta-Thalassemia

UNKNOWN NA

Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia

NCT01443312

Thalassemia

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

* The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016)
* 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 .

* The mechanism of this mutation depends on formation of a new splicing site resulting in 80% abnormal spliced mRNA and 20% normal mRNA .
* The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and in 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 analyzed after amplification by PCR for Detection of point mutation IVS I-110 (G\>A) by Using primer pairs that only amplify individual alleles.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Beta-Thalassemia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

ARMS PCR

ARMS PCR using primer pairs that only amplify individual alleles

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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