1Department of Basic Science, College of Nursing, University of Duhok, Duhok, Kurdistan Region, Iraq.
2Department of Clinical Pharmacy, College of Pharmacy, University of Duhok, Duhok, Kurdistan Region, Iraq.
3Department of Medical Laboratory Technology, College of Health and Medical Technology/Shekhan, Duhok Polytechnic University, Duhok, Kurdistan region, Iraq.
*Corresponding Author E-mail: fahad.jameel@uod.ac
Beta thalassemia represents a major public health challenge in Iraq due to high carrier rates and customary consanguineous marriages. However, region-specific data on the molecular epidemiology of beta thalassemia in the high-risk Kurdish population is limited. This study aimed to characterize the spectrum and frequencies of beta thalassemia mutations among patients from Duhok city over 2014-2022.
A retrospective analysis of de-identified beta thalassemia genetic records of 224 Duhok city natives from a medical laboratory was conducted. 22 common Middle Eastern mutations were tested using polymerase chain reaction reverse dot blot assay.
The predominant mutations detected were IVS-I-110 (G>A) (25.8%), IVS-I-6 (T>C) (17.8%), and IVS-II-1 (G>A) (9.7%), comprising over 50% of alleles. The most prevalent genotype was homozygous IVS-II-1 (G>A) (14.3%). Temporal analysis showed relative stability in mutation patterns over 2014-2022. No genotype-phenotype associations were found.
This study provides vital population- specific evidence on beta thalassemia molecular epidemiology in the high-risk Duhok Kurdish community. The findings can strengthen molecular diagnosis, carrier screening, counselling and prevention strategies.
Beta thalassemia, Molecular epidemiology, Mutation, Homozygous
