Author(s): Fahad A. Jameel, Amer A. Mehe, Sawer S. Ahmed

Email(s): fahad.jameel@uod.ac

DOI: 10.52711/0974-360X.2026.00235   

Address: Fahad A. Jameel1*, Amer A. Mehe2, Sawer S. Ahmed3
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

Published In:   Volume - 19,      Issue - 4,     Year - 2026


ABSTRACT:
Background: 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. Methods: 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. Results: 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. Conclusions: 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.


Cite this article:
Fahad A. Jameel, Amer A. Mehe, Sawer S. Ahmed. Molecular Epidemiology of Beta Thalassemia Mutations in Duhok City, Kurdistan Region of Iraq: A 9-Year Retrospective Study. Research Journal of Pharmacy and Technology. 2026;19(4):1641-5. doi: 10.52711/0974-360X.2026.00235

Cite(Electronic):
Fahad A. Jameel, Amer A. Mehe, Sawer S. Ahmed. Molecular Epidemiology of Beta Thalassemia Mutations in Duhok City, Kurdistan Region of Iraq: A 9-Year Retrospective Study. Research Journal of Pharmacy and Technology. 2026;19(4):1641-5. doi: 10.52711/0974-360X.2026.00235   Available on: https://rjptonline.org/AbstractView.aspx?PID=2026-19-4-24


REFERENCES:
1.    Unissa R. Monica B. Konakanchi S. Darak R. Keerthana SL. Kumar SA. Thalassemia: a review. Asian Journal of Pharmaceutical Research. 2018; 8(3): 195-202. https://doi.org/10.5958/2231-5691.2018.00034.5.
2.    Shanmugam V. Self-Care Deficits in Adolescents with Thalassemia: Qualitative study. International Journal of Advances in Nursing Management. 2014 Apr 28; 2(2): 55-60. https://doi.org/10.5958/2454-2652.
3.    Surhan RK. Darweesh M. Al-Obiadi AB. IL-10-1082A\G gene polymorphism and production in β-thalassemia major and association with HCV infection. Research Journal of Pharmacy and Technology. 2018; 11(6): 2603-8. https://doi.org/10.5958/0974-360X.2018.00482.1.
4.    Al-Allawi NA. Jubrael JM. Hughson M. Molecular characterization of β-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2006 Jan 1; 30(4): 479-86. https://doi.org/10.1080/03630260600868097.
5.    AL-Shimaysawee S. Determination of some types of mutations in Iraqi transfusion dependent beta-thalassemia patients. Research Journal of Pharmacy and Technology. 2018; 11(10): 4675-8. https://doi.org/10.5958/0974-360X.2018.00855.7.
6.    Hussein NA. Al-Harbi HJ. Determination the levels of Bone Morphogentic Protein-2, P-selectin, substance P in β-Thalassemia major in Iraqi patients. Research Journal of Pharmacy and Technology. 2019; 12(6): 2677-81. https://doi.org/10.5958/0974-360X.2019.00447.5.
7.    Hussein NA. Al-Harbi HJ. Determination the levels of Bone Morphogentic Protein-2, P-selectin, substance P in β-Thalassemia major in Iraqi patients. Research Journal of Pharmacy and Technology. 2019; 12(6): 2677-81. https://doi.org/10.5958/0974-360X.2019.00447.5.
8.    Al-Mosawi RA. Al-Fartosi KG. Oxidant and antioxidant status of patients with sickle cell-β thalassemia in Thi-Qar Province, Iraq. Research Journal of Pharmacy and Technology. 2020; 13(10): 4796-800. https://doi.org/10.5958/0974-360X.2020.00843.4.
9.    Shakkour R. Hammoud T. Mukhalalaty Y. Al Quobaili F. Investigation of gonadal function, puberty, and their relationship to serum ferritin in male patients with p-thalassemia major in Syria. Research Journal of Pharmacy and Technology. 2021; 14(7): 3595-602. https://doi.org/10.52711/0974-360X.2021.00622.
10.    Wijaya AB. Marhaeni W. Devi WR. Saputra M. Rahman G. Oxidative stress and renal function in pediatric patients with beta thalassemia major (β-TM) receiving deferiprone and deferasirox: A cross-sectional, single center study. Research Journal of Pharmacy and Technology. 2023; 16(3): 1225-30. https://doi.org/10.52711/0974-360X.2023.00203.
11.    Widyastuti E. Notopuro PB. Ratwita M. Rahman A. Soneta M. Rochmi SE. Correlation between Serum Ferritin level and Immature Reticulocyte Fraction (IRF) in Children with Beta Thalassemia Major. Research Journal of Pharmacy and Technology. 2024 Sep 1; 17(9): 4194-8. https://doi.org/10.52711/0974-360X.2024.00648.
12.    Allen SJ. O’donnell A. Alexander ND. Alpers MP. Peto TE. Clegg JB. Weatherall DJ. α+-Thalassemia protects children against disease caused by other infections as well as malaria. Proceedings of the National Academy of Sciences. 1997 Dec 23; 94(26): 14736-41. https://doi.org/10.1073/pnas.94.26.14736.
13.    Enevold A. Lusingu JP. Mmbando B. Alifrangis M. Lemnge MM. Bygbjerg IC. Theander TG. Vestergaard LS. Reduced risk of uncomplicated malaria episodes in children with alpha+-thalassemia in northeastern Tanzania. The American journal of tropical medicine and hygiene. 2008 May 1;78(5):714-20.
14.    Rezaee AR. Banoei MM. Khalili E. Houshmand M. Beta‐thalassemia in Iran: new insight into the role of genetic admixture and migration. The Scientific World Journal. 2012; 2012(1): 635183. https://doi.org/10.1100/2012/635183.
15.    Rao E. Chandraker SK. Singh MM. Kumar R. Global distribution of β-thalassemia mutations: An update. Gene. 2024 Feb 20; 896: 148022. https://doi.org/10.1016/j.gene.2023.148022.
16.    Weatherall DJ. Clegg JB. The thalassaemia syndromes. John Wiley and Sons; 2008 Apr 30.
17.    Al-Ali AK. Al-Ateeq S. Imamwerdi BW. Al-Sowayan S. Al-Madan M. Al-Muhanna F. Bashaweri L. Qaw F. Molecular Bases of β‐Thalassemia in the Eastern Province of Saudi Arabia. BioMed Research International. 2005; 2005(4): 322-5. https://doi.org/10.1155/JBB.2005.322.
18.    Hamamy H. Consanguineous marriages: preconception consultation in primary health care settings. Journal of community genetics. 2012 Jul; 3(3): 185-92. https://doi.org/10.1007/s12687-011-0072-y.
19.    Abbasi-Shavazi MJ. McDonald P. Hosseini-Chavoshi M. Modernization or cultural maintenance: the practice of consanguineous marriage in Iran. Journal of biosocial science. 2008 Nov; 40(6): 911-33. https://doi.org/10.1017/S0021932008002782.
20.    Cao A. Moi P. Galanello R. Recent advances in β-thalassemias. Pediatric reports. 2011 Jun 16; 3(2): e17. https://doi.org/10.4081/pr.2011.e17.
21.    Aziz MA. The Kurds of Iraq: Nationalism and Identity in Iraqi Kurdistan. 2011. https://doi.org/10.1163/9789004505995_012.
22.    Fuccaro N. Minorities and ethnic mobilisation: the Kurds in Northern Iraq and Syria. The British and French Mandates in Comparative Perspectives. 2004; Jan 1: 579-95. https://doi.org/10.1163/9789047402695_032.
23.    Saleem M. Aslam W. Lali MI. Rauf HT. Nasr EA. Predicting thalassemia using feature selection techniques: A comparative analysis. Diagnostics. 2023; Nov 14; 13(22): 3441. https://doi.org/10.3390/diagnostics13223441.
24.    Eklund L. No Friends but the Mountains Understanding Population Mobility and Land Dynamics in Iraqi Kurdistan.
25.    Al-Allawi NA. Jubrael JM. Hughson M. Molecular characterization of β-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2006 Jan 1; 30(4): 479-86. https://doi.org/10.1080/03630260600868097.
26.    Mitchell JJ. Capua A. Clow C. Scriver CR. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. American journal of human genetics. 1996 Oct; 59(4): 793.
27.    Rahim F. Keikhaei B. Aberumand M. Prenatal Diagnosis (PND) of β-Thalassemia in the Khuzestan Province, Iran. Journal of Clinical and Diagnostic Research. 2007 Jan 1; 1(6): 454-9.
28.    Hassan AN. Molecular and Some Hematological Investigations of β-thalassemic Children in Erbil Governorate. PhD, Salahaddin Univ Erbil. 2016 Jun.
29.    Al-Allawi NA. Jalal SD. Nerwey FF. Al-Sayan GO. Al-Zebari SS. Alshingaly AA. Markous RD. Jubrael JM. Hamamy H. Sickle cell disease in the Kurdish population of northern Iraq. Hemoglobin. 2012 Aug 1; 36(4): 333-42. https://doi.org/10.3109/03630269.2012.692344.
30.    Cousens NE. Gaff CL. Metcalfe SA. Delatycki MB. Carrier screening for beta-thalassaemia: a review of international practice. European Journal of Human Genetics. 2010 Oct; 18(10): 1077-83. https://doi.org/10.1038/ejhg.2010.90.
31.    Jalal SD. Al-Allawi NA. Bayat N. Imanian H. Najmabadi H. Faraj A. β-Thalassemia mutations in the Kurdish population of northeastern Iraq. Hemoglobin. 2010 Oct 1; 34(5): 469-76. https://doi.org/10.3109/01676830.2010.513591.
32.    Al-Allawi NA. Jalal SD. Mohammad AM. Omer SQ. Markous RS. β‐Thalassemia Intermedia in Northern Iraq: A Single Center Experience. BioMed Research International. 2014; 2014(1): 262853. https://doi.org/10.1155/2014/262853.
33.    Al-Allawi NA. Hassan KM. Sheikha AK. Nerweiy FF. Dawood RS. Jubrael J. β‐Thalassemia mutations among transfusion‐dependent thalassemia major patients in Northern Iraq. Molecular biology international. 2010; 2010(1): 479282. https://doi.org/10.4061/2010/479282.
34.    Al-Allawi N. Al Allawi S. Jalal SD. Genetic epidemiology of hemoglobinopathies among Iraqi Kurds. Journal of community genetics. 2021 Jan; 12(1): 5-14. https://doi.org/10.1007/s12687-020-00495-z.
35.    Al-Gazali L. Hamamy H. Al-Arrayad S. Genetic disorders in the Arab world. Bmj. 2006 Oct 19; 333(7573): 831-4. https://doi.org/10.1136/bmj.38982.704931.AE.
36.    Shamoon RP. Al-Allawi NA. Cappellini MD. Di Pierro E. Brancaleoni V. Granata F. Molecular basis of β-thalassemia intermedia in Erbil province of Iraqi Kurdistan. Hemoglobin. 2015 May 4; 39(3): 178-83. https://doi.org/10.3109/03630269.2015.1032415.
37.    Khayat AM. Alshareef BG. Alharbi SF. AlZahrani MM. Alshangity BA. Tashkandi NF. Alshareef BG. Consanguineous marriage and its association with genetic disorders in Saudi Arabia: a review. Cureus. 2024 Feb 9; 16(2). https://doi.org/10.7759/cureus.53888.
38.    Shamoon RP. Yassin AK. Polus RK. Ali MD. Genotype-phenotype correlation of HbH disease in northern Iraq. BMC Medical Genetics. 2020 Oct 15; 21(1): 203. https://doi.org/10.1186/s12881-020-01141-8.
39.    Origa R. β-Thalassemia. Genetics in medicine. 2017 Jun; 19(6): 609-19. https://doi.org/10.1038/gim.2016.173.
40.    Shrivastava M. Bathri R. Chatterjee N. Mutational analysis of thalassemia in transfusion-dependent beta-thalassemia patients from central India. Asian Journal of Transfusion Science. 2019; Jul 1; 13(2): 105-9. https://doi.org/10.4103/ajts.AJTS_115_18.
41.    Bozkurt G. Results from the north cyprus thalassemia prevention program. Hemoglobin. 2007 Jan 1; 31(2): 257-64. https://doi.org/10.1080/03630260701297204.
42.    Bittles AH. Black ML. Consanguinity, human evolution, and complex diseases. Proceedings of the National Academy of Sciences. 2010 Jan 26; 107(suppl_1): 1779-86. https://doi.org/10.1073/pnas.0906079106.


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