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Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq

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Abstract

Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridization to detect 20 β-thalassemia mutations. A total of eleven different β-thalassemia mutations were documented. The most frequent mutation was IVS-I-110 (G>A) documented in 34 %, followed by IVS-I-6 (T>C) in 9.6 %, IVS-I-5(G>C) in 8.5 %, codon 39 (C>T) and codon 44 (−C) in 7.4 % each, while IVS-I-1(G>A) and IVS-II-1(G>A) were encountered in 6.4 % each. Other mutations were less frequent including codon 8 (−AA), IVS-I-130 (G>C), codon 5 (−CT) and IVS-II-745(C>G). The current study revealed notable differences in the relative frequencies of several β-thalassemia mutations in Nineveh province as compared to other parts of Northern Iraq. Such an observation may be reflective of different ethnic backgrounds and varying historical population interactions. It is believed that these findings complement those of earlier studies on β-thalassemia mutations from the country, and are quite essential in the setting of a proposed national preventive program.

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References

  1. Weatherall DJ, Clegg JB (2001) The thalassaemia syndromes, 4th edn. Blackwell, Oxford

    Book  Google Scholar 

  2. Galanello R, Origa R (2010) Beta-thalassemia. Orphanet J Rare Dis 5:11. doi:10.1186/1750-1172-5-11

    Article  PubMed Central  PubMed  Google Scholar 

  3. Hamamy H, Al-Allawi N (2013) The epidemiology of haemoglobinopathies in Arab countries. J Commun Genet 4:147–167

    Article  Google Scholar 

  4. Tadmouri GO, Nair P, Obeid T, Al-Ali MT, Hamamy HA (2009) Consanguinity and reproductive health among Arabs. Reprod Health 6:17. doi:10.1186/1742-4755-6-17

    Article  PubMed Central  PubMed  Google Scholar 

  5. http://www.britannica.com/EBcheched/topic/376828/history-of-Mesopotamia

  6. Jalal S, Al-Allawi N, Bayat N, Imanian H, Najmabadi H, Faraj A (2010) Beta thalassemia mutations in the Kurdish population of Northeastern Iraq. Hemoglobin 34:469–476

    Article  CAS  PubMed  Google Scholar 

  7. Al-Allawi N, Hassan KMA, Sheikha AK, Nerweiy FF, Dawood RS, Jubrael J (2010) Beta thalassemia mutations among transfusion dependent thalassemia major patients in Northern Iraq. Mol Biol Int. doi:10.4061/2010/479282

    PubMed Central  PubMed  Google Scholar 

  8. Al-Allawi N, Jubrael J, Hughson M (2006) Molecular characterization of β thalassemias in Dohuk Region of Iraq. Hemoglobin 30:479–486

    Article  CAS  PubMed  Google Scholar 

  9. Galanello R, Eleftheriou A, Traaeger-Synedions J, Petrou M, Angastiniotis M (2003) Prevention of thalassemia and othe hemoglobin disorders, vol 1. TIF Publications, Nicosia

    Google Scholar 

  10. Altay C (2002) The frequency and distribution pattern of β-thalassemia mutations in turkey. Turk J Hematol 19:309–315

    CAS  Google Scholar 

  11. Makhoul NJ, Wells RS, Kaspar H, Shbaklo H, Taher A, Chakar N, Zalloua PA (2005) Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet 69:55–66

    Article  CAS  PubMed  Google Scholar 

  12. Kyriacou K, Al QF, Pavlou E, Christopoulos G, Ioannou P, Kleanthous M (2000) Molecular characterization of beta-thalassemia in Syria. Hemoglobin 24:1–13

    Article  CAS  PubMed  Google Scholar 

  13. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, Amirizadeh N, Karimi-Nejad MH (2001) The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin 25:285–296

    Article  CAS  PubMed  Google Scholar 

  14. Jiffri EH, Bogari N, Zidan KH, Teama S, Elhawary NA (2010) Molecular updating of β-thalassemia mutations in the upper Egyptian population. Hemoglobin 34:538–547

    Article  CAS  PubMed  Google Scholar 

  15. Sadiq MF, Eigel A, Horst J (2001) Spectrum of β-thalassemia in Jordan: identification of two novel mutations. Am J Hematol 68:16–22

    Article  CAS  PubMed  Google Scholar 

  16. Tadmouri GO, Tüzmen S, Özçelik H, Özer A, Baig SM, Senga EB, Başak AN (1998) Molecular and population genetic analyses of β-thalassemias in Turkey. Am J Hematol 57:215–220

    Article  CAS  PubMed  Google Scholar 

  17. Başak AN (2007) The molecular pathology of β-thalassemia in Turkey: the Boǵaziçi university experience. Hemoglobin 31:233–241

    Article  PubMed  Google Scholar 

  18. Őner R, Altay C, Gurgey A, Aksoy M, Kilinc Y, Stoming TA, Reese AL, Kutlar A, Kutlar F, Huisman THJ (1990) β-Thalassemia in Turkey. Hemoglobin 14:1–13

    Article  PubMed  Google Scholar 

  19. Tadmouri GO (1999) β-thalassemia in Turkey: distribution, diversity, evaluation and phenotype-genotype correlations. PhD thesis. Boǵaziçi University. Turkey

  20. Al-Allawi NAS, Al-Mousawi BMS, Badi AIA, Jalal SD (2013) The spectrum of β-thalassemia mutations in Baghdad, Central Iraq. Hemoglobin 37:444–453

    Article  CAS  PubMed  Google Scholar 

  21. Tamagnini GP, Lopes MC, Castanheira ME, Wainscot JS, Wood WG (1983) β+Thalassaemia—Portuguese type: clinical, haematological and molecular studies of a newly defined form of β-thalassaemia. Br J Haematol 54:189–200

    Google Scholar 

  22. El-Latif MA, Filon D, Rund D, Oppenheim A, Kanaan M (2002) The β+-IVS-I-6 (T→C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. Hemoglobin 26:33–40

    Article  CAS  PubMed  Google Scholar 

  23. Gupta A, Sarwai S, Pathak N, Agarwal S (2008) Beta-globin gene mutations in India and their linkage to β-haplotypes. Int J Hum Genet 8:237–241

    CAS  Google Scholar 

  24. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B (2001) A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractpry mutation system—polymerase chain reaction. Hemoglobin 25:397–407

    Article  CAS  PubMed  Google Scholar 

  25. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DKH, Anagnou NP, Wajcman H, Hardison RC (2004) Improvement in HbVar Database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 32 (Database issue): D537–D541 (http://globin.sce.psu.edu)

  26. Nerweiy FF, Al-Allawi NA, Jubrael J, Dawood RS (2010) The application of the amplification refractory mutation system (ARMS) for characterization β-thalassaemia mutations in Duhok. Duhok Med J 4:8–20

    Google Scholar 

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Acknowledgments

The authors acknowledge the contributions of D. Jassim, C. Saleem and M. Riyad who have done part of the DNA extractions for this study.

Conflict of interest

The authors have no conflict of interest to report.

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Authors and Affiliations

  1. Department of Pathology, Scientific Research Center, Faculty of Medical Sciences, University of Duhok, 9 Azadi Hospital Road, Duhok, 1014AM, Iraq

    Adil A. Eissa & Nasir A. S. Al-Allawi

  2. Department of Pathology, College of Medicine, University of Mousel, Nineveh, Iraq

    Muna A. Kashmoola

  3. Department of Hematology, Azadi Teaching Hospital, Duhok, Iraq

    Sulav D. Atroshi

Authors
  1. Adil A. Eissa
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  2. Muna A. Kashmoola
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  3. Sulav D. Atroshi
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  4. Nasir A. S. Al-Allawi
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Correspondence to Nasir A. S. Al-Allawi.

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Eissa, A.A., Kashmoola, M.A., Atroshi, S.D. et al. Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq. Indian J Hematol Blood Transfus 31, 213–217 (2015). https://doi.org/10.1007/s12288-014-0369-1

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  • DOI: https://doi.org/10.1007/s12288-014-0369-1

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