Vol 14 (2023): Continuous Publishing
Research paper
Published online: 2023-06-15

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Study of type and frequency of Alfa-thalassemia mutations in a cohort of 3,823 patients from Isfahan Province, Iran

Parvaneh Tavakoli Afshar1, Zohreh Taherian23, Negar Nouri4, Erfan Zaker23, Sara Asadi1, Farzaneh Rami3, Roya Bakhtiari2, Majid Hosseinzadeh13, Mansoor Salehi2
Hematology in Clinical Practice 2023;14:24-29.

Abstract

Introduction: Alpha-thalassemia (α-thalassemia) is caused by a range of mutations in the α-globin gene resulting in the complete reduction or absence of α-globin chain production. Material and methods: This study assessed the presence of α-thalassemia in 3,823 patients referred to Al-Zahra Hospital, Isfahan, Iran during a 10-year period (from 2012 to 2022). These patients experienced anaemia for more than ten years but had not the full indication for β-thalassemia or iron deficiency. Results: Based on the present assessment, 3,483 cases out of 3,823 suspicious cases had an α-Thalassemia-involved mutation (91.1%). According to the results, the most common detected mutation in the α-thalassemia carriers of Isfahan province was –α3.7 with a frequency of 81.58% (3,119 individuals), followed by α5nt (–TGAGG) (3.71% in total or 39.01% between 364 patients), polyadenylation signal mutations (polyA2) (14.28% between 364 patients), αcodon 19 (GCG4GC–, a2) (11.53%), –α3.7/–α3.7 (11.53%), –α20.5 (7.69%), Hb Constant Spring [Hb CS, a142, Stop →Gln; HBA2: c.427T4C] (5.7%), α4.2 (5.49) and – –MED (4.67%). Conclusion: The results of this investigation may be valuable for designing a program for carrier screening, premarital genetic counselling, and prenatal diagnosis in the Isfahan province.

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References

  1. Mahdieh N, Rabbani B. Beta thalassemia in 31,734 cases with HBB gene mutations: pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East. Blood Rev. 2016; 30(6): 493–508.
  2. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001; 79(8): 704–712.
  3. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001; 2(4): 245–255.
  4. Harteveld CL, Higgs D. α-thalassaemia. Orphanet Journal of Rare Diseases. 2010; 5(1).
  5. Piel FB, Weatherall DJ. The α-thalassemias. N Engl J Med. 2014; 371(20): 1908–1916.
  6. Zhang J, Zhu BS, He J, et al. The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China. Hemoglobin. 2012; 36(5): 464–473.
  7. Karamzade A, Mirzapour H, Hoseinzade M, et al. α-globin gene mutations in Isfahan Province, Iran. Hemoglobin. 2014; 38(3): 161–164.
  8. Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004; 57(5): 517–522.
  9. Samavat A, Modell B. Iranian national thalassaemia screening programme. BMJ. 2004; 329(7475): 1134–1137.
  10. Hadavi V, Taromchi AH, Malekpour M, et al. Elucidating the spectrum of alpha-thalassemia mutations in Iran. Haematologica. 2007; 92(7): 992–993.
  11. Neyshabouri M, Abbasi-Moheb L, Kahrizi K, et al. Alpha-thalassemia: deletion analysis in Iran. Arch Irn Med. 2001; 4(4): 160–164.
  12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215.
  13. Chong SS, Boehm CD, Higgs DR, et al. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000; 95(1): 360–362.
  14. Khosravi A, Jalali-Far M, Saki N, et al. Evaluation of α-globin gene mutations among different ethnic groups in Khuzestan Province, Southwest Iran. Hemoglobin. 2016; 40(2): 113–117.
  15. Hashemi-Soteh SM, Karami H, Mousavi SS, et al. Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. J Clin Lab Anal. 2020; 34(1): e23018.
  16. Saleh-Gohari N, Khosravi-Mashizi A. Spectrum of α-globin gene mutations in the Kerman Province of Iran. Hemoglobin. 2010; 34(5): 451–460.
  17. Moradi K, Aznab M, Biglari M, et al. Molecular genetic analysis of α-thalassemia in Hamadan Province, West Iran. Hemoglobin. 2020; 44(5): 319–324.
  18. Moradi K, Aznab M, Tahmasebi S, et al. The spectrum of α-thalassemia mutations in the Lak population of Iran. Hemoglobin. 2019; 43(2): 107–111.
  19. Harteveld CL, Yavarian M, Zorai A, et al. Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol. 2003; 74(2): 99–103.
  20. Eftekhari H, Tamaddoni A, Mahmoudi Nesheli H, et al. A comprehensive molecular investigation of α-thalassemia in an Iranian cohort from different provinces of North Iran. Hemoglobin. 2017; 41(1): 32–37.
  21. Dehbozorgian J, Moghadam M, Daryanoush S, et al. Distribution of alpha-thalassemia mutations in Iranian population. Hematology. 2015; 20(6): 359–362.
  22. Pouranfard J, Vafaei F, Rezaeian M, et al. Thalassemia gene mutations in Kohgiluyeh and Boyer-Ahmad province. IJBC. 2020; 12(1): 18–23.
  23. Moradi K, Aznab M, Biglari M, et al. Molecular genetic analysis of α-thalassemia in Hamadan Province, West Iran. Hemoglobin. 2020; 44(5): 147–152.
  24. Alibakhshi R, Moradi K, Aznab M, et al. The spectrum of α-thalassemia mutations in Kurdistan Province, West Iran. Hemoglobin. 2020; 44(3): 156–161.
  25. Derakhshan SM, Khaniani MS, Afkhami F, et al. Molecular study of deletional and nondeletional mutations on the α-globin locus in the Azeri population of Northwestern Iran. Hemoglobin. 2016; 40(5): 319–322.
  26. Miri-Moghaddam E, Nikravesh A, Gasemzadeh N, et al. Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran. Int J Hematol Oncol Stem Cell Res. 2015; 9(3): 138–142.
  27. Zarbakhsh B, Farshadi E, Ariani Kashani A, et al. Molecular study of alpha-thalassemia mutations in Iranian potential carriers. Sci J Iran Blood Transfus Org. 2010; 7(2): 70–77.
  28. Valaei A, Karimipoor M, Kordafshari A, et al. Molecular basis of α-thalassemia in Iran. Iran Biomed J. 2018; 22(1): 6–14.
  29. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008; 86(6): 480–487.
  30. Hossein F, Mohsen R, Mohsen M, et al. α-thalassemia mutations in two provinces of Southern Iran: Fars & Kohkeloye and Bouyer Ahmad. Hemoglobin. 2012; 36(2): 139–143.
  31. Hadavi V, Jafroodi M, Hafezi-Nejad N, et al. Alpha-thalassemia mutations in Gilan Province, North Iran. Hemoglobin. 2009; 33(3): 235–241.
  32. Sarookhani MR, Asiabanha M. Spectrum of α-thalassemia mutations in Qazvin Province, Iran. African Journal of Biotechnology. 2011; 10(77): 17690–17694.
  33. Abolghasemi H, Amid A, Zeinali S, et al. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol. 2007; 29(4): 233–238.
  34. Zareifar S, Jabbari A, Cohan N, et al. Efficacy of combined desferrioxamine and deferiprone versus single desferrioxamine therapy in patients with major thalassemia. Arch Iran Med. 2009; 12(5): 488–491.
  35. Tamaddoni A, Hadavi V, Nejad NH, et al. Alpha-thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin. 2009; 33(2): 115–123.
  36. El-Kalla S, Baysal E. Alpha-thalassemia in the United Arab Emirates. Acta Haematol. 1998; 100(1): 49–53.
  37. Nashtahosseini Z, Nazemi A, Keihanian S, et al. Frequency of seven common deletion alfa-globins mutation carriers in suspect referred In West Mazandaran, Iran. Electronic J Biol. 2016; 12(1): 18–21.
  38. Rahim F. Microcytic hypochromic anemia patients with thalassemia : Genotyping approach. Indian Journal of Medical Sciences. 2009; 63(3): 101.
  39. Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002; 19(3): 225–233.