Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq

Document Type : Original Articles


1 Collage of education for women, University of Thi-Qar, Nasiriyah, Iraq

2 General Directorate of Education in Thi-Qar Iraq


The prevalence of alpha-thalassemia as a major health problem in the south of Iraq has highlighted the necessity of investigations and screening of patients with thalassemia. The present study aimed to characterize the spectrum of alpha-globin gene mutations in patients who were followed up in a genetic diseases center in Thi-Qar province. A total of 30 subjects were collected from thalassemia patients and 15 cases as the control group. Polymerase chain reaction (PCR) and direct sequencing were performed for functionally regions of the gene (exon 1 and exon 2). The fragment size amplified was 442 bp in the Exon 1 region and 324 bp in the Exon 2 region of α-globin. The molecular analysis of the sequence of PCR products revealed that 13 point mutation within the α-thalassemia gene included deletion and substitution mutation, while the rest of the mutations were in the intron site of the gene. These results indicated that mutations may constitute a risk of developing hemophilia B disease. Molecular mechanisms in the expression of globin genes are used to help manage patients with thalassemia.


Main Subjects

  1. Polus R. Prevalence of hemoglobinopathies among marrying couples in Erbil province of Iraq. 2017;6(2):90-3.
  2. Sabath DE. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017;148(1):6-15.
  3. Nezhad FH, Nezhad KH, Choghakabodi PM, Keikhaei B. Prevalence and Genetic Analysis of alpha- and beta-Thalassemia and Sickle Cell Anemia in Southwest Iran. J Epidemiol Glob Health. 2018;8(3-4):189-95.
  1. Laghmich A, Alaoui Ismaili FZ, Barakat A, Ghailani Nourouti N, Khattab M, Bennani Mechita M. Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum. Biomed Res Int. 2019;2019:2080352.
  2. Al-Allawi NA, Jalal SD, Ahmed NH, Faraj AH, Shalli A, Hamamy H. The first five years of a preventive programme for haemoglobinopathies in Northeastern Iraq. J Med Screen. 2013;20(4):171-6.
  3. Shamoon RP, Al-Allawi NA, Cappellini MD, Di Pierro E, Brancaleoni V, Granata F. Molecular Basis of beta-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan. Hemoglobin. 2015;39(3):178-83.
  4. 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.
  5. Yang Z, Zhou W, Cui Q, Qiu L, Han B. Gene spectrum analysis of thalassemia for people residing in northern China. BMC Med Genet. 2019;20(1):86.
  6. Vichinsky EP. Changing patterns of thalassemia worldwide. Ann N Y Acad Sci. 2005;1054:18-24.
  7. Aziz A, Ahmed W, Sarward G. Molecular analysis of Hb-E and Beta-thalassemia major patients among Bangladeshi population. Austin J Biotechnol Bioeng. 2017;4(4):1085.
  8. Al-Allawi NA, Jalal SD, Nerwey FF, Al-Sayan GO, Al-Zebari SS, Alshingaly AA, et al. Sickle cell disease in the Kurdish population of northern Iraq. Hemoglobin. 2012;36(4):333-42.
  9. Farashi S, Harteveld CL. Molecular basis of alpha-thalassemia. Blood Cells Mol Dis. 2018;70:43-53.
  10. Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, et al. Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene. Hemoglobin. 2016;40(1):38-43.
  11. Liebhaber SA, Kan YW. Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics. J Clin Invest. 1981;68(2):439-46.