Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Authors

  • Ali Habeeb Odah Al-Musawi
  • Hussein Mohammed Aziz
  • Safa Khudair
  • Tahreer Hadi Saleh

DOI:

https://doi.org/10.51248/.v42i5.2280

Keywords:

beta-thalassemia, mutation, PCR

Abstract

Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients.

 

Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for mutations using sequence analysis tools.

 

Results: Molecular analysis revealed several mutations in the HBB gene including translocation, deletion and substitution mutations in the population tested positive for the beta -thalassemia trait.

 

Conclusion:  Thalassemia major is a serious concern in southern Iraq and therefore this study emphasizes a need for complete mutation profiling of the beta -globin gene as a strategy for screening of carriers within the population. Such examinations could be useful in pre-marital genetic counseling and for undertaking prevention and treatment measures.

Author Biographies

Ali Habeeb Odah Al-Musawi

Deparatement of Biology, College of Education for Women, University of Thi-Qar, Thi-Qar, Iraq

Hussein Mohammed Aziz

Department of Anesthesia Techniques, College of Medical Science Technology, The University of Masherq, Baghdad, Iraq

Safa Khudair

Department of Dental Prosthetic Technology, Medical Technical College, Al-Farahidi University, Al-Jadiriyah Bridge, Baghdad, Iraq

Tahreer Hadi Saleh

Biology Department, College of science, Mustansiriyah University. Baghdad, Iraq

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Published

2022-11-14

How to Cite

1.
Odah Al-Musawi AH, Mohammed Aziz H, Khudair S, Hadi Saleh T. Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq. Biomedicine [Internet]. 2022 Nov. 14 [cited 2022 Nov. 27];42(5):1040-3. Available from: https://biomedicineonline.org/home/article/view/2280

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