A SPECTRUM OF Β-THALASSEMIA MUTATIONS IN SULAIMANI PROVINCE OF IRAQ: IDENTIFICATION OF NOVEL MUTATIONS

Volume 13 , Issue 4 , July 2025 , Pages 403-409

Authors

Narmeen Salih Ahmad 1 ; Hersh Abdul Ham Karim 2 ; Luqman Khalid Rasool 3 ; Khanzad Ahmed Ali 1 ; Mohammed Abdalla Mahmood 4 ; Tara Jamel Osman 3 ; Chawan Wrya Hamakhan 1

1 Kurdistan Institution for Strategic Studies and Scientific Research, Sulaimani, Iraq

2 College of Medicine, Komar University of Science and Technology, Chaq-Chaq-Qualaraisi, Sulaimani, Kurdistan Region, Iraq

3 Hiwa Cancer Hospital/Thalassemia and Congenital Blood Disorders Center, Sulaimani, Kurdistan Region, Iraq

4 Dental Basic Science Department, College of Denti stry, University of Sulaimani, Kurdistan Region, Iraq

DOI logo 10.17656/jsmc.10435

Keywords

Abstract

Background
β-thalassemia is a most common hereditary disease where the patients suffer from decreased or absence of
beta-globin chain synthesis, which leads to hemolytic anaemia and other complications. Very little data about
beta-globin mutations in the Kurdish population is available to date.
Objective
This study aimed to provide a more precise picture of the β-thalassemia mutations spectrum and to estimate
their frequencies.
Methods
A cohort of 100 β-thalassemia patients was tested to detect mutations in the beta-globin gene’s regions (3
exons and two introns) using molecular techniques (polymerase chain reaction and Sanger sequencing).
Results
In this study, a total of 31 beta-thalassemia mutations were identifi ed. The results showed that IVSII-666
C>T and IVSII-16 G>C were predominant over other mutations, with 59% of thalassemic patients having
these mutations. Other common mutations found, in order of decreasing frequency, were Cd2 T>C, IVSII-74
T>G, IVS1-110 G>A, IVSI-5 G>C, IVSII-1 G>A, IVSII-81 C>T. The remaining mutations were uncommon
and accounted for a few cases. More importantly, fi ve novel beta-thalassemia mutations, namely, IVSII-13
G>A, IVSII-14 A>C, IVSII-17 delC, IVSII-68_69 dupG, and Cd2/3 +C, were discovered which have not been
previously reported in other populations.
Conclusion
The results obtained in this study can be used as a guide before prenatal diagnosis and during premarital
screening of β-thalassemia in the Kurdish population. 

Statistics
  • Article view782
  • Downloads7
  • First online26 July 2025
  • Published at26 July 2025

  • RIS
  • BibTeX
  • EndNote
  • Mendeley
  • APA (7th edition)
  • MLA (9th edition)
  • Chicago
  • Harvard
  • IEEE
  • Vancouver