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 | Unknown

• 1 other identifier: thalassemia mutation
• Study Type: observational
• Target: 141
• Locations: 0 countries
• Sites: N/A

Brief Summary

1. 1.\- To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T\>C) mutation.
2. 2.\- To detect the prevelence of the mutation among Assiut University Hospital patients.
3. 3.\- Phenotype/genotype correlation of the mutation.

Conditions

Beta-Thalassemia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• teaching purpose

  2 years

Interventions

ARMS GENETIC

amplification refractory mutation system

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

around 141 (suspected \& clinically diagnosed cases).

You may qualify if:

• : β thalassemia (suspected \& clinically diagnosed cases).

You may not qualify if:

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

Sponsors & Collaborators

• Assiut University: lead

Related Publications (4)

• Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.

  PMID: 27811859 BACKGROUND

• Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.

  PMID: 20492708 BACKGROUND

• 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.

  PMID: 25523871 BACKGROUND

• 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.

  PMID: 32414341 BACKGROUND

MeSH Terms

Conditions

beta-Thalassemia

Condition Hierarchy (Ancestors)

Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Fatma Elzahraa Mohamed Abd Elrady

CONTACT

01099696566; fattmamohamedabdelrady@gmail.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: resident doctor

Study Record Dates

• First Submitted: May 7, 2022
• First Posted: May 11, 2022
• Study Start: May 1, 2022
• Primary Completion: September 1, 2024
• Study Completion: December 1, 2024
• Last Updated: May 11, 2022

Record last verified: 2022-05