Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 48, 2024 - Issue 2
46
Views
0
CrossRef citations to date
0
Altmetric
Research Articles

A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia

ORCID Icon, , , ORCID Icon, , , , & show all
Pages 94-100 | Received 20 Nov 2023, Accepted 13 Feb 2024, Published online: 23 Feb 2024

References

  • Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5(1):11. doi: 10.1186/1750-1172-5-11.
  • Taher AT, Musallam KM, Cappellini MD. β-Thalassemia. N Engl J Med. 2021;384(8):727–743. doi: 10.1056/NEJMra2021838.
  • Thein SL, Menzel S, Lathrop M, et al. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216–223. doi: 10.1093/hmg/ddp401.
  • Jaing T-H, Chang T-Y, Chen S-H, et al. Molecular genetics of β-thalassemia, a narrative review. Medicine . 2021;100 (45):e27522. doi: 10.1097/MD.0000000000027522.
  • Xu J, Bauer DE, Kerenyi MA, et al. Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proc Natl Acad Sci U S A. 2013;110 (16):6518–6523. doi: 10.1073/pnas.1303976110.
  • Thein SL. Genetic association studies in β-hemoglobinopathies. Hematology Am Soc Hematol Educ Program. 2013;2013(1):354–361. doi: 10.1182/asheducation-2013.1.354.
  • Vinjamur DS, Bauer DE, Orkin SH. Recent progress in understanding and manipulating haemoglobin switching for haemoglobinopathies. Br J Haematol. 2018;180 (5):630–643. doi: 10.1111/bjh.15038.
  • Danjou F, Francavilla M, Anni F, et al. A genetic score for prediction of beta-thalassemia severity. Haematologica. 2015;100(4):452–457. doi: 10.3324/haematol.2014.113886.
  • Al-Allawi N, Qadir SMA, Puehringer H, et al. The association of HBG2. BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease. Int. J Lab Hematol. 2019;41:87–93.
  • Galanello R, Eleftheriou A, Trager-Synodinos J, et al. Prevention of thalassaemia and other haemoglobin disorders, Volume 1. Nicosia (Cyprus): Thalassemia International Federation Publications; 2003.
  • National center for biotechnology information (NCBI). Database of single nucleotide polymorphisms (DbSNP). National library of Medicine. Available from: http://www.ncbi.nlm.nih.gov/SNP.
  • Thein SL. Genetic insights into the clinical diversity of β thalassaemia. Br J Haematol. 2004;124(3):264–274. doi: 10.1046/j.1365-2141.2003.04769.x.
  • 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.
  • Badens C, Joly P, Agouti I, et al. Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease. Haematologica. 2011;96(11):1712–1714. doi: 10.3324/haematol.2011.046748.
  • Thuret I, Pondarré C, Loundou A, et al. Complications and treatment of patients with β-thalassemia in France: results of the National Registry. Haematologica. 2010;95(5):724–729. doi: 10.3324/haematol.2009.018051.
  • Cappellini MD, Cohen A, Porter J, et al. Guidelines for the Management of Transfusion Dependent Thalassemia (TDT). 3rd ed. Nicosia (Cyprus): Thalassemia International Federation, 2014.
  • Al-Allawi NAS, Puehringer H, Raheem RA, et al. Genetic modifiers in β-thalassemia intermedia: a study on 102 Iraqi Arab patients. Genet Test Mol Biomarkers. 2015;19(5):242–247. doi: 10.1089/gtmb.2014.0310.
  • Oron-Karni V, Filon D, Oppenheim A, et al. Rapid detection of common Mediterranean α-globin gene deletions/rearrangements using PCR. Am J Hematol. 1998;58(4):306–310. doi: 10.1002/(SICI)1096-8652(199808)58:4<306::AID-AJH10>3.0.CO;2-5.
  • Al-Allawi NA, Badi AI, Imanian H, et al. Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2009;33(1):37–44. doi: 10.1080/03630260802626053.
  • Sripichai O, Fucharoen S. Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches. Expert Rev Hematol. 2016;9(12):1129–1137. doi: 10.1080/17474086.2016.1255142.
  • Musallam KM, Rivella S, Vichinsky E, et al. Non-transfusion-dependent thalassemias. Haematologica. 2013;98(6):833–844. doi: 10.3324/haematol.2012.066845.
  • Banan M, Bayat H, Namdar-Aligoodarzi P, et al. Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types in Iranian patients. Hemoglobin. 2013;37(5):413–422. doi: 10.3109/03630269.2013.805418.
  • Ansari S, Rashid N, Hanifa A, et al. Laboratory diagnosis for thalassemia intermedia: are we there yet? J Clin Lab Anal. 2019;33(1):e22647.
  • Colah R, Nadkarni A, Gorakshakar A, et al. Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells Mol Dis. 2004;33(2):153–157. doi: 10.1016/j.bcmd.2004.05.002.
  • Hariharan P, Gorivale M, Sawant P, et al. Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine. Sci Rep. 2021;11(1):20906. doi: 10.1038/s41598-021-00169-x.
  • Al-Allawi NAS, Jalal SD, Mohammad AM, et al. β-Thalassemia intermedia in Northern Iraq: a single-center experience. Biomed Res Int. 2014;2014:262853–262859. doi: 10.1155/2014/262853.
  • Shamoon RP, Al-Allawi NAS, Cappellini MD, et al. Molecular basis of β-thalassemia intermedia in Erbil Province of Iraqi Kurdistan. Hemoglobin. 2015;39(3):178–183. doi: 10.3109/03630269.2015.1032415.
  • Verma IC, Kleanthous M, Saxena R, et al. Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin. 2007;31(4):439–452. doi: 10.1080/03630260701641245.
  • Nguyen TKT, Joly P, Bardel C, et al. The Xmn1 Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 β-thalassemia intermedia patients. Blood Cells Mol Dis. 2010;45(2):124–127. doi: 10.1016/j.bcmd.2010.04.002.
  • Dabke P, Colah RB, Ghosh K, et al. Effect of a group of genetic markers around the 5’ regulatory regions of the β globin gene cluster linked to high HbF on the clinical severity of β thalassemia. Blood Cells Mol Dis. 2013;50(3):156–160. doi: 10.1016/j.bcmd.2012.11.003.
  • Said F, Abdel-Salam A. Xmn1 polymorphism: relation to β-thalassemia phenotype and genotype in Egyptian children. Egypt J Med Hum Genet. 2015;16(2):123–127. doi: 10.1016/j.ejmhg.2014.12.005.
  • 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.
  • Nadkarni A, Dabke P, Colah R, et al. Molecular understanding of Indian untransfused thalassemia intermedia. Int J Lab Hematol. 2015;37(6):791–796. doi: 10.1111/ijlh.12407.
  • Rujito L, Basalamah M, Siswandari W, et al. Modifying effect of Xmn1, BCL11A and HBS1L-MYB on clinical appearances: a study on β-thalassemia and hemoglobin E/β-thalassemia in Indonesia. Hematol Oncol Stem Cell Ther. 2016;9(2):55–63. doi: 10.1016/j.hemonc.2016.02.003.
  • Danjou F, Anni F, Perseu L, et al. Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica. 2012;97(7):989–993. doi: 10.3324/haematol.2011.053504.
  • Phanrahan P, Yamsri S, Teawtrakul N, et al. Molecular analysis of non-transfusion dependent thalassemia associated with hemoglobin D-β-thalassemia disease without α-thalassemia. Mediterr J Hematol Infect Dis. 2019;11(1):e2019038. doi: 10.4084/MJHID.2019.038.
  • Bashir S, Mahmood S, Mohsin S, et al. Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on fetal hemoglobin levels in β-thalassemia major and intermedia patients. J Pakistani Med Ass. 2021;71(5):1394–1398.
  • Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian β0 thalassemia by genetic modifiers. Blood. 2009;114(18):3935–3937. doi: 10.1182/blood-2009-04-217901.
  • Danjou F, Anni F, Galanello R. Beta thalassemia: from genotype to phenotype. Haematologica. 2011;96(11):1573–1575. doi: 10.3324/haematol.2011.055962.
  • Munkongdee T, Tongsima S, Ngamphiw C, et al. Predictive SNPs for β0- thalassemia/HbE disease severity. Sci Rep. 2021;11(1):10352. doi: 10.1038/s41598-021-89641-2.

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.