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Status unknownNCT05133388Updated Jan 31, 2023

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

An observational study in Beta-Thalassemia, sponsored by Assiut University. Status unknown at 1 site in Egypt. Per ClinicalTrials.gov, last updated 2023-01-31.

Sponsored by Assiut University · Observational

The sponsor has not verified this record recently (last verified Jan 2023), so the status shown — last known as Recruiting — may be out of date.
Study type
Observational
Model
Case-control
Time perspective
Retrospective
Enrollment
150
Sex
All
01

Study summary

  • 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.
Read the detailed description
  • 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.
02

Conditions studied

  • Beta-Thalassemia
03

In context

Thalassemia

416 studies on the registry are indexed under Thalassemia; 67 are open to participants now.

This study's planned enrollment of 150 is above the median of 100 across 120 observational studies indexed under Thalassemia.

Browse Thalassemia studies →

Lead sponsor

Assiut University is the lead sponsor of 4,901 studies on the registry; 2,098 are open to participants now.

Of its 13 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Sampling method
Non-probability sample

Study population

Assiut University Hospitals patients

Inclusion criteria

  • β thalassemia (suspected \& clinically diagnosed cases)

Exclusion criteria

Exclusion Criteria:

  • Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.
05

Study design

Observational model
Case-control
Time perspective
Retrospective
Enrollment
150 participants (estimated)
Patient registry
No

Interventions

  • GeneticARMS PCR

    ARMS PCR using primer pairs that only amplify individual alleles

06

What researchers measure

Primary outcomes

  1. Introduction of arms pcr in diagnosis .

    To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation

    Time frame: 2 years

  2. Database initation .

    Initiating database of haemoglobinopathesis by registering data.

    Time frame: 2 years

07

Study locations

1 of 1 sites recruiting
  • Faculty of Medicine Assiut University
    Assiut, Egypt
    • Mohamed Samir · Contact · 01015484723
    Recruiting
08

References and documents

Publications

  • 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. PubMed 19497317 ↗
  • Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. doi: 10.1080/00365510601046466. PubMed 17365985 ↗
  • 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. doi: 10.1080/03630260601057104. PubMed 17365006 ↗
  • 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. PubMed 20557680 ↗
  • 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 beta-Thalassemia. Mediterr J Hematol Infect Dis. 2014 Nov 1;6(1):e2014071. doi: 10.4084/MJHID.2014.071. eCollection 2014. PubMed 25408857 ↗
  • Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM. beta-Globin Mutations in Egyptian Patients With beta-Thalassemia. Lab Med. 2015 Winter;46(1):8-13. doi: 10.1309/LM1AYKG6VE8MLPHG. PubMed 25617386 ↗
  • Kurtoglu A, Karakus V, Erkal O, Kurtoglu E. beta-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. PubMed 28276871 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 31, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT05133388
Lead sponsor
Assiut University
Responsible party
Amira Saber Hamed Ahmed (ASHAhmed, Assiut University) — Principal investigator
First posted
Nov 24, 2021
Start date
Jan 30, 2023
Primary completion
Jun 2024 (estimated)
Completion
Oct 2024 (estimated)
Last update
Jan 31, 2023

Study contacts

Amira Saber
Contact
amirasaberh@gmail.com
01063954423
Mohamed Samir
Contact
Ola Afifi
study director · Assiut University

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Jan 2023. You cannot join it, but the record below documents what was studied.

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