Detection of Krupple Like Factor -1(KLF1/ EKLF) DNA Mutations in Beta Thalassemia Patients

NCT06433570 | Not Yet Recruiting

• 1 other identifier: EKLFmutation in β thalassemia
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief Summary

• Detection of KLF1 gene mutations in patients with beta thalassemia considering the alpha and beta molecular status of these patients.
• Study the relation between genotypic mutational status of KLF1 mutation with the level of Hb F and Hb A2 in the patients of beta thalassemia.

Conditions

EKLF Mutations in Beta Thalassemia Patients

Outcome Measures

Primary Outcomes (1)

• Detection of KLF1 gene mutations in patients with beta thalassemia considering the beta molecular status of these patients

  Study the relation between genotypic mutational status of KLF1 mutation with the level of Hb F and Hb A2 in the patients of beta thalassemia and with the clinical data (frequency of blood transfusions).

  Baseline

Study Arms (2)

50 patients with beta thalassemia intermedia

Genetic: multiplex PCR

50 patients with beta thalassemia major

Genetic: multiplex PCR

Interventions

multiplex PCR GENETIC

Detection of Krupple Like Factor -1(KLF1/ EKLF) DNA Mutations in Beta Thalassemia Patients using multiplex PCR

50 patients with beta thalassemia intermedia; 50 patients with beta thalassemia major

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

cross sectional study

You may qualify if:

• Patients with β-thalassemia (intermedia and major) of both genders at any age

You may not qualify if:

• Patients with any other type of haemolytic anaemias.
• Patients on Hydroxyurea therapy

Sponsors & Collaborators

• Assiut University: lead

Related Publications (10)

• Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011 Aug 25;118(8):2044-54. doi: 10.1182/blood-2011-03-331371. Epub 2011 May 25.

  PMID: 21613252 BACKGROUND

• Tallack MR, Perkins AC. Three fingers on the switch: Kruppel-like factor 1 regulation of gamma-globin to beta-globin gene switching. Curr Opin Hematol. 2013 May;20(3):193-200. doi: 10.1097/MOH.0b013e32835f59ba.

  PMID: 23474875 BACKGROUND

• Elagooz R, Dhara AR, Gott RM, Adams SE, White RA, Ghosh A, Ganguly S, Man Y, Owusu-Ansah A, Mian OY, Gurkan UA, Komar AA, Ramamoorthy M, Gnanapragasam MN. PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin. Blood Adv. 2022 Dec 13;6(23):6016-6022. doi: 10.1182/bloodadvances.2021006730.

  PMID: 35667093 BACKGROUND

• Borg J, Papadopoulos P, Georgitsi M, Gutierrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgur Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1.

  PMID: 20676099 BACKGROUND

• Srivorakun H, Thawinan W, Fucharoen G, Sanchaisuriya K, Fucharoen S. Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population. Arch Med Sci. 2020 Aug 11;18(1):112-120. doi: 10.5114/aoms.2020.93392. eCollection 2022.

  PMID: 35154532 BACKGROUND

• Waye JS, Eng B. Kruppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations. Int J Lab Hematol. 2015 May;37 Suppl 1:78-84. doi: 10.1111/ijlh.12356.

  PMID: 25976964 BACKGROUND

• Hariharan P, Colah R, Ghosh K, Nadkarni A. Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders. Genomics. 2019 Dec;111(6):1771-1776. doi: 10.1016/j.ygeno.2018.11.032. Epub 2018 Dec 5.

  PMID: 30529538 BACKGROUND

• Xie XM, Liu YN, Li J, Jiang F, Li DZ. A Kruppel-Like Factor 1 Gene Mutation Ameliorates the Severity of beta-Thalassemia: A Case Report. Hemoglobin. 2019 Mar;43(2):137-139. doi: 10.1080/03630269.2019.1607373. Epub 2019 May 21.

  PMID: 31111750 BACKGROUND

• El-Beshlawy A, Youssry I. Prevention of hemoglobinopathies in Egypt. Hemoglobin. 2009;33 Suppl 1:S14-20. doi: 10.3109/03630260903346395.

  PMID: 20001619 BACKGROUND

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

  PMID: 27811859 RESULT

MeSH Terms

Interventions

Multiplex Polymerase Chain Reaction

Intervention Hierarchy (Ancestors)

Polymerase Chain Reaction; Nucleic Acid Amplification Techniques; Genetic Techniques; Investigative Techniques

Study Officials

• Reem Abd Elkhalek Mohamed, lecturer

  Assiut University

  STUDY DIRECTOR

• Hebatallah Ahmed, lecturer

  Assiut University

  STUDY DIRECTOR

Central Study Contacts

mohamed mahmoud

CONTACT

01113225644; doctor4egypt2011@yahoo.com

Somia Mohammed, prof

CONTACT

01118279876; Somaia2020m@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assiut

Study Record Dates

• First Submitted: May 23, 2024
• First Posted: May 29, 2024
• Study Start: June 1, 2024
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: May 29, 2024

Record last verified: 2024-05