MOLECULAR EPIDEMIOLOGY OF ALPHA THALASSEMIA MUTATIONS IN DUHOK CITY, KURDISTAN REGION OF IRAQ: A 9-YEAR RETROSPECTIVE STUDY
Keywords:
alpha thalassemia, mutations, molecular epidemiology, Duhok City, Iraq, Kurdistan
Abstract
https://doi.org/10.31386/dmj.2024.18.2.3
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.
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References
REFERENCES
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40. Al-Allawi NA, Al-Dousky AA. Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme. East Mediterr Health J. 2010;16(4):381-5.
1. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-55.
2. Origa R. β-Thalassemia. Genet Med. 2017;19(6):609-19.
3. Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases. 2010;5(1):11.
4. Harteveld CL, Higgs DR. α-thalassaemia. Orphanet Journal of Rare Diseases. 2010;5(1):13.
5. Weatherall DJ, Williams TN, Allen SJ, O'Donnell A. The population genetics and dynamics of the thalassemias. Hematol Oncol Clin North Am. 2010;24(6):1021-31.
6. service indicators. Bull World Health Organ. 2008;86(6):480-7.
7. Al-Allawi N, Al Allawi S, Jalal SD. Genetic epidemiology of hemoglobinopathies among Iraqi Kurds. J Community Genet. 2021;12(1):5-14.
8. Lihadh A-G, Hanan H, Shaikha A-A. Genetic disorders in the Arab world. BMJ. 2006;333(7573):831.
9. Alwan A, Modell B. Recommendations for introducing genetics services in developing countries. Nat Rev Genet. 2003;4(1):61-8.
10. Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ. 2006;333(7573):831-4.
11. MacDonald CG. The Kurds. J Polit Sci. 1991;19(1):9.
12. Alhuthali HM, Ataya EF, Alsalmi A, Elmissbah TE, Alsharif KF, Alzahrani HA, et al. Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence. Thromb J. 2023;21(1):115.
13. Shamoon RP, Yassin AK, Polus RK, Ali MD. Genotype-phenotype correlation of HbH disease in northern Iraq. BMC Med Genet. 2020;21(1):203.
14. Asghari Ahmadabad M, Pourreza N, Ramezanpour S, Baghersalimi A, Enshaei M, Askari M, et al. An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, Noth of Iran. Front Pediatr. 2023;11:1039148.
15. Bozdogan ST, Yuregir OO, Buyukkurt N, Aslan H, Ozdemir ZC, Gambin T. Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation. Indian J Hematol Blood Transfus. 2015;31(2):223-8.
16. Al Allawi NA, Al Dousky AA. Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme. 2010.
17. PREVALENCE OF BETA THALASSEMIA IN A SAMPLE OF SCHOOL AGE CHILDREN IN SULAIMANI CITY. JOURNAL OF SULAIMANI MEDICAL COLLEGE. 2018;8(4):245 - 50.
18. Al-Allawi N, Badi A, Imanian H, Nikzat N, Jubrael J, Najmabadi H. Molecular Characterization of -Thalassemia in the Dohuk Region of Iraq. Hemoglobin. 2009;33:37-44.
19. Shamoon RP. Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan. Mol Biol Rep. 2020;47(8):6067-71.
20. Osman M. Kurdistan Region of Iraq population analysis report [updated February 2021. Available from: https://krso.gov.krd/ar.
21. Hamamy HA, Al-Allawi NA. Epidemiological profile of common haemoglobinopathies in Arab countries. J Community Genet. 2013;4(2):147-67.
22. Al-Allawi N, Jubrael J, Hughson M. Molecular Characterization of β-Thalassemia in the Dohuk Region of Iraq. Hemoglobin. 2006;30:479-86.
23. Shamoon R. Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan. Molecular Biology Reports. 2020;47.
24. Valaei A, Karimipoor M, Kordafshari A, Zeinali S. Molecular Basis of α-Thalassemia in Iran. Iran Biomed J. 2018;22(1):6-14.
25. Vijian D, Wan Ab Rahman WS, Ponnuraj KT, Zulkafli Z, Mohd Noor NH. Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques. Medeni Med J. 2021;36(3):257-69.
26. Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P. Human alpha-thalassemia syndromes: detection of molecular defects. Am J Hematol. 1996;53(2):81-91.
27. Zahed L. The Spectrum of beta-Thalassemia Mutations in the Arab Populations. J Biomed Biotechnol. 2001;1(3):129-32.
28. Tan JA, George E, Tan KL, Chow T, Tan PC, Hassan J, et al. Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience. Clin Exp Med. 2004;4(3):142-7.
29. Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, et al. Molecular characteristics of α+-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics. Clinical Biochemistry. 2019;71:31-7.
30. Shamoon R, Al-Allawi N, Cappellini M, Di Pierro E, Brancaleoni V, Granata F. Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan. Hemoglobin. 2015;39:1-6.
31. Borgio JF, Abdulazeez S, Almandil NB, Naserullah ZA, Al-Jarrash S, Al-Suliman AM, et al. The ‑α3.7 deletion in α‑globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population. Mol Med Rep. 2018;17(1):1879-84.
32. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61-76.
33. Angastiniotis M, Eleftheriou A, Galanello R, Harteveld CL, Petrou M, Traeger-Synodinos J, et al. In: Old J, editor. Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 1: Principles. Nicosia (Cyprus): Thalassaemia International Federation
© 2013 Thalassaemia International Federation.; 2013.
34. Alhuthali HM, Ataya EF, Alsalmi A, Elmissbah TE, Alsharif KF, Alzahrani HA, et al. Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence. Thrombosis Journal. 2023;21(1):115.
35. Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni KH, Rahmani M, et al. Distribution of beta-thalassemia mutations in the northern provinces of Iran. Hemoglobin. 2007;31(3):351-6.
36. Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, et al. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol. 2007;29(4):233-8.
37. Miri-Moghaddam E, Zadeh-Vakili A, Rouhani Z, Naderi M, Eshghi P, Khazaei Feizabad A. Molecular basis and prenatal diagnosis of β-thalassemia among Balouch population in Iran. Prenat Diagn. 2011;31(8):788-91.
38. Karakaş Z, Koç B, Temurhan S, Elgün T, Karaman S, Asker G, et al. Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective. Turk J Haematol. 2015;32(4):344-50.
39. Dungul DC, Ozdag H, Akar N. Hemoglobin alpha 2 gene +861 G>A polymorphism in Turkish population. Egyptian Journal of Medical Human Genetics. 2011;12(1):59-62.
40. Al-Allawi NA, Al-Dousky AA. Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme. East Mediterr Health J. 2010;16(4):381-5.
Published
2025-01-13
How to Cite
1.
ABDULWAHAB JAMEEL F. MOLECULAR EPIDEMIOLOGY OF ALPHA THALASSEMIA MUTATIONS IN DUHOK CITY, KURDISTAN REGION OF IRAQ: A 9-YEAR RETROSPECTIVE STUDY. Duhok Medical Journal [Internet]. 13Jan.2025 [cited 13Jun.2026];18(2):24-3. Available from: https://dmj.uod.ac/index.php/dmj/article/view/316
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Duhok Medical Journal (DMJ)
College of Medicine, University of Duhok
Duhok, Iraq
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