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

Authors

  • Narmeen Salih Ahmad Kurdistan Institution for Strategic Studies and Scientific Research, Sulaimani, Kurdistan Region, Iraq.
  • Hersh Abdul Ham Karim College of Medicine, Komar University of Science and Technology, Chaq-Chaq-Qualaraisi, Sulaimani, Kurdistan Region, Iraq.
  • Luqman Khalid Rasool Hiwa Cancer Hospital, Thalassemia and Congenital Blood Disorders Center, Sulaimani, Kurdistan Region, Iraq.
  • Khanzad Ahmed Ali Kurdistan Institution for Strategic Studies and Scientific Research, Sulaimani, Kurdistan Region, Iraq.
  • Mohammed Abdalla Mahmood Dental Basic Science Department, College of Dentistry, University of Sulaimani, Kurdistan Region, Iraq.
  • Tara Jamel Osman Hiwa Cancer Hospital, Thalassemia and Congenital Blood Disorders Center, Sulaimani, Kurdistan Region, Iraq.
  • Chawan Wrya Hamakhan Kurdistan Institution for Strategic Studies and Scientific Research, Sulaimani, Kurdistan Region, Iraq.

DOI:

https://doi.org/10.17656/jsmc.10435

Keywords:

β-Thalassemia, Mutation, Beta globin gene, Polymerase chain reaction, Sanger sequencing

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 identified. 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, five 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.

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Published

2023-12-21

How to Cite

1.
Ahmad N, Karim H, Rasool L, Ali K, Mahmood M, Osman T, et al. A SPECTRUM OF Β-THALASSEMIA MUTATIONS IN SULAIMANI PROVINCE OF IRAQ: IDENTIFICATION OF NOVEL MUTATIONS. JSMC [Internet]. 2023 Dec. 21 [cited 2024 Apr. 23];13(4):7. Available from: https://jsmc.univsul.edu.iq/index.php/jsmc/article/view/jsmc-10435

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