Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 47, 2023 - Issue 3
67
Views
0
CrossRef citations to date
0
Altmetric
Research Articles

Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq

, ORCID Icon &
Pages 111-117 | Received 31 Mar 2023, Accepted 05 Jul 2023, Published online: 02 Aug 2023

References

  • Weatherall DJ, Clegg JB. The thalassemia syndromes. 4th ed. Oxford (Oxon, UK): Blackwell Sciences, Oxford, 2001.
  • Hamamy HA, Al-Allawi NA. Epidemiological profile of common haemoglobinopathies in Arab countries. J Community Genet. 2013;4(2):147–167. doi:10.1007/s12687-012-0127-8.
  • Al-Allawi N, Al Allawi S, Jalal SD. Genetic epidemiology of hemoglobinopathies among Iraqi Kurds. J Community Genet. 2021;12(1):5–14. doi:10.1007/s12687-020-00495-z.
  • Orkin SH, Kazazian HH, Antonarakis SE, et al. Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature. 1982;296(5858):627–631. doi:10.1038/296627a0.
  • Chakravarti A, Buetow KH, Antonarakis SE, et al. Nonuniform recombination within the human β-globin gene cluster. Am J Hum Genet. 1984;36(6):1239–1258.
  • Flint J, Harding RM, Clegg JB, et al. Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet. 1993;91(2):91–117. doi:10.1007/BF00222709.
  • Callegari-Jacques SM, Crossetti SG, Kohlrausch FB, et al. The beta-globin gene cluster distribution revisited-patterns in native American populations. Am J Phys Anthropol. 2007;134(2):190–197. doi:10.1002/ajpa.20653.
  • Al-Zebari SM, Al-Allawi N, Nerweyi FA. Beta globin gene cluster haplotypes in Iraqi Kurds. Duhok Med J. 2023.
  • Al-Allawi NA, Jalal SD, Nerwey FF, et al. Sickle cell disease in the Kurdish population of northern Iraq. Hemoglobin. 2012;36(4):333–342. doi:10.3109/03630269.2012.692344.
  • Atroshi SD, Al-Allawi NAS, Eissa AA. Updated molecular spectrum of β-thalassemia mutations in Duhok Province, Northern Iraq: ethnic variation and the impact of immigration. Hemoglobin. 2021;45(4):239–244. doi:10.1080/03630269.2021.1984250.
  • Kazazian HH, Jr Orkin SH, Antonarakis SE, et al. Molecular characterization of seven β-thalassemia mutations in Asian Indians. Embo J. 1984;3(3):593–596. doi:10.1002/j.1460-2075.1984.tb01853.x.
  • Rahimi Z, Muniz A, Akramipour R, et al. Haplotype analysis of beta thalassemia patients in Western Iran. Blood Cells Mol Dis. 2009;42(2):140–143. doi:10.1016/j.bcmd.2008.12.001.
  • Arshi Z, Zabihi K. Kurdistan. Ӧstersund: Oriental Art Publications, 1990.
  • Izady MR. The Kurds: a concise handbook. Washington, DC: Taylor and Francis, 1992.
  • Arnaiz-Villena A, Palacio-Grüber J, Muñiz E, et al. Genetic HLA Study of Kurds in Iraq, Iran and Tbilisi (Caucasus, Georgia): relatedness and medical implications. PLoS One. 2017;12(1):e0169929. doi:10.1371/journal.pone.0169929.
  • Najmabadi H, Karimi-Nejad R, Sahebjam S, et al. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin. 2001;25(3):285–296. doi:10.1081/HEM-100105221.
  • Akhavan-Niaki H, Derakhshandeh-Peykar P, Banihashemi A, et al. A comprehensive molecular characterization of β thalassemia in a highly heterogeneous population. Blood Cell Mol Dis. 2011;47(1):29–32. doi:10.1016/j.bcmd.2011.03.005.
  • Diaz-Chico JC, Yang KG, Stoming TA, et al. Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood. 1988;71(1):248–251. doi:10.1182/blood.V71.1.248.248.
  • Filon D, Oron V, Krichevski S, et al. Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events. Am J Hum Genet. 1994;54(5):836–843.
  • Makhoul NJ, Wells RS, Kaspar H, et al. Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet. 2005;69(1):55–66.
  • Rahimi Z, Merat A, Akhzari M, et al. β-globin gene cluster haplotypes in Iranian patients with β-thalassemia. Int J Hematol-Oncol Stem Cell Res. 2005;2(6):30–34.
  • Derakhshan SM, Khorram A, Pour Feizi AH, et al. Spectrum of β-globin gene mutations and β-thalassemia haplotype analysis among the Iranian Azeri Turkish population. Epidemiology. 2015;5:4.
  • Ince HH, Ayyildiz O, Kalkanli S, et al. Molecular basis of beta-thalassemia mutations in Diyarbakir in the southeastern region of Turkey. Hemoglobin. 2003;27(4):275–278.
  • Tadmouri GO, Tüzmen S, Ozçelik H, et al. Molecular and population genetic analyses of beta-thalassemia in Turkey. Am J Hematol. 1998;57(3):215–220. doi:10.1002/(SICI)1096-8652(199803)57:3<215::AID-AJH6>3.0.CO;2-Y.
  • El-Latif MA, Filon D, Rund D, et al. The beta + IVS1-6 (T > C) accounts for half the thalassemic chromosomes in the Palestinian population of mountain regions. Hemoglobin. 2002;26(1):33–40. doi:10.1081/hem-120002938.
  • El-Gawhary S, El-Shafie S, Niazi M, et al. Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients. Hemoglobin. 2007;31(1):63–69. doi:10.1080/03630260601057104.
  • Galanello R, Eleftheriou A, Trager-Synodinos J, et al. Prevention of thalassemia and other haemoglobin disorders. Vol. 1. Nicosia (Cyprus): Thalassemia International Federation Publications, 2003.
  • Rund D, Oron-Karni V, Filon D, et al. Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am J Hematol. 1997;54(1):16–22. doi:10.1002/(SICI)1096-8652(199701)54:1<16::AID-AJH3>3.0.CO;2-7.
  • Tadmouri GO. β-Thalassemia in Turkey: distribution, diversity, evolution and phenotype-genotype correlations [PhD thesis]. Turkey: Boṍaziçi University, 1999.
  • Al-Allawi NA, Al-Mousawi BM, Badi AI, et al. The spectrum of β-thalassemia mutations in Baghdad, Central Iraq. Hemoglobin. 2013;37(5):444–453. doi:10.3109/03630269.2013.810641.
  • Murad H, Moasses F, Dabboul A, et al. Geographical distribution of β-globin gene mutations in Syria. Hematology. 2018;23(9):697–704. doi:10.1080/10245332.2018.1461291.
  • Bahadir A, Ӧztürk O, Atalay A, et al. Beta globin gene cluster haplotypes of the beta thalassemia mutations observed in the Denzili province of Turkey. Turk J Hematol. 2009;26:129–137.
  • Murad H, Moassas F, Ghoury I, et al. Haplotype analysis of three common β-thalassemia mutations in Syrian patients. Hemoglobin. 2018;42(5–6):302–305. doi:10.1080/03630269.2018.1553789.
  • Rund D, Cohen T, Filon D, et al. Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. Proc Natl Acad Sci U S A. 1991;88(1):310–314. doi:10.1073/pnas.88.1.310.
  • Al-Allawi NA, Jubrael JM, Hughson M. Molecular characterization of beta-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2006;30(4):479–486. doi:10.1080/03630260600868097.
  • Jouini L, Sahli CA, Laaouini N, et al. Association between clinical expression and molecular heterogeneity in β-thalassemia Tunisian patients. Mol Biol Rep. 2013;40(11):6205–6212. doi:10.1007/s11033-013-2732-y.
  • Filon D, Oron V, Shawa R, et al. Spectrum of beta-thalassemia mutations in the Gaza area. Hum Mutat. 1995;5(4):351–353. doi:10.1002/humu.1380050416.
  • Aliyeva G, Asadov C, Mammadova T, et al. Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations. Ann Hum Genet. 2020;84(3):249–258. doi:10.1111/ahg.12367.
  • Haghi M, Khorshidi S, Hosseinpour Feizi MA, et al. beta-thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces. Hemoglobin. 2009;33(2):109–114. doi:10.1080/03630260902862020.
  • Agouti I, Badens C, Abouyoub A, et al. Molecular basis of β-thalassemia in Morocco: possible origins of molecular heterogeneity. Genet Test. 2008;12 (4):563–568. doi:10.1089/gte.2008.0058.
  • Ansari SH, Shamsi TS, Ashraf M, et al. Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications. Indian J Hum Genet. 2012;18(2):193–197. doi:10.4103/0971-6866.100762.
  • Bandyopadhyay A, Bandyopadhyay S, Chowdhury MD, et al. Major beta-globin gene mutations in Eastern India and their associated haplotypes. Hum Hered. 1999;49(4):232–235. doi:10.1159/000022880.
  • Fisher CA, Premawardhena A, de Silva S, et al. The molecular basis for the thalassaemias in Sri Lanka. Br J Haematol. 2003;121(4):662–671. doi:10.1046/j.1365-2141.2003.04346.x.
  • Kukreti R, Dash D, Vineetha KE, et al. Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in Eastern Indian population. Am J Hematol. 2002;70(4):269–277. doi:10.1002/ajh.10117.
  • Varawalla NY, Fitches AC, Old JM. Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassemia on the Indian subcontinent. Hum Genet. 1992;90 (4):443–449. doi:10.1007/BF00220475.
  • Chakrabarti P, Gupta R, Mishra A, et al. Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis. Clin Biochem. 2005;38(6):576–578. doi:10.1016/j.clinbiochem.2005.03.002.
  • Rosatelli MC, Dozy A, Faa V, et al. Molecular characterization of β-thalassemia in the Sardinian population. Am J Hum Genet. 1992;50(2):422–426.
  • Pirastu M, Galanello R, Doherty MA, et al. The same β-globin gene mutation is present on nine different β-thalassemia chromosomes in a Sardinian population. Proc Natl Acad Sci USA. 1987;84(9):2882–2885. doi:10.1073/pnas.84.9.2882.
  • Oner R, Altay C, Gurgey A, et al. Beta-thalassemia in Turkey. Hemoglobin. 1990;14(1):1–13. doi:10.3109/03630269009002250.
  • Schwartz EI, Gol’tsov AA, Kaboev OK, et al. A novel frameshift mutation causing beta-thalassemia in Azerbaijan. Nucleic Acids Res. 1989;17(10):3997. doi:10.1093/nar/17.10.3997.
  • Indrak K, Brabec V, Indrakova J, et al. Molecular characterization of beta thalassemia in Czechoslovakia. Hum Genet. 1992;88(4):399–404. doi:10.1007/BF00215673.
  • Al-Allawi NA, Jalal SD, Mohammad AM, et al. β -thalassemia intermedia in Northern Iraq: a single center experience. Biomed Res Int. 2014;2014:262853. doi:10.1155/2014/262853.
  • Wong C, Antonarakis SE, Goff SC, et al. Beta thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta globin gene. Blood. 1989;73(4):914–918. doi:10.1182/blood.V73.4.914.914.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.