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

Beta-Thalassemia Clinical Trial

Official title:

The Prevelence of HBB c.93-21 G-A Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05133388
• Other study ID #: ß thalassemia gene mutation
• Status: Recruiting
• Start date: January 30, 2023
• Est. completion date: October 2024

Study information

• Verified date: January 2023
• Source: Assiut University
• Contact: Amira Saber
• Phone: 01063954423
• Email: amirasaberh[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: October 2024
• Est. primary completion date: June 2024
• 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 PCR
ARMS PCR using primer pairs that only amplify individual alleles

Locations

Country	Name	City	State
Egypt	Faculty of Medicine Assiut University	Assiut

Sponsors (1)

Lead Sponsor	Collaborator
Assiut University

Country where clinical trial is conducted

Egypt, 

References & Publications (7)

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. doi: 10.1080/00365510601046466. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Introduction of arms pcr in diagnosis .	To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation	2 years
Primary	Database initation .	Initiating database of haemoglobinopathesis by registering data.	2 years