MOLECULAR EPIDEMIOLOGY OF ALPHA THALASSEMIA MUTATIONS IN DUHOK CITY, KURDISTAN REGION OF IRAQ: A 9-YEAR RETROSPECTIVE STUDY

ABSTRACT Background: Alpha thalassemia demonstrates high prevalence in Iraq, particularly among consanguineous Kurdish subgroups. However, data remains limited regarding the molecular epidemiology of causative alpha globin mutations in this population. This study aimed to elucidate the mutational spectrum and temporal distribution of alpha thalassemia alleles among native inhabitants of Duhok City in northern Iraq. Methods: In this retrospective cross-sectional study, positive alpha globin genetic testing records of 1,295 Duhok natives at a specialized northern Iraqi laboratory from 2014-2022 were analyzed to determine mutant genotype and allele frequencies. Results: The five most common mutant genotypes detected were -α3.7/-α3.7 (5.5%), -α3.7/αα (19.1%), -αMED/αα (3.2%), -α3.7/-αMED (2.6%) and ααIVS1-5nt/αα (1.5%). The -α3.7 deletion was predominant affecting 43.8% of alleles. A steady 9-year upward annual detection trajectory was observed. Conclusions: Population-specific molecular analysis may provide seminal evidence to shape thalassemia screening and prevention policies targeting the high-risk marginalized Kurdish community in northern Iraq.