The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran

References

• Kattamis A, Forni GL, Aydinok Y, et al. Changing patterns in the epidemiology of beta-thalassemia. Eur J Haematol. 2020;105(6):692–703. doi:10.1111/ejh.13512.
   PubMed Web of Science ®Google Scholar
• Hadipour Dehshal M, Tabrizi Namini M, Hantoushzadeh R, et al. beta-thalassemia in Iran: things everyone needs to know about this disease. Hemoglobin. 2019;43(3):166–173. doi:10.1080/03630269.2019.1628774.
   PubMed Web of Science ®Google Scholar
• Alibakhshi R, Moradi K, Aznab M, et al. The spectrum of beta-thalassemia mutations in Hamadan province, West Iran. Hemoglobin. 2019;43(1):18–22. doi:10.1080/03630269.2019.1584114.
   PubMed Web of Science ®Google Scholar
• Galehdari H, Salehi B, Azmoun S, et al. Comprehensive spectrum of the beta-Thalassemia mutations in Khuzestan, southwest Iran. Hemoglobin. 2010;34(5):461–468. doi:10.3109/03630269.2010.514153.
   PubMed Web of Science ®Google Scholar
• Haghi M, Khorshidi S, Hosseinpour Feizi MA, et al. β-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces. Hemoglobin. 2009;33(2):109–114. doi:10.1080/03630260902862020.
   PubMed Web of Science ®Google Scholar
• Hamzehloei T, Mohajer TF. The spectrum of mutations in 100 thalassemic carriers referred to Ghaem Hospital of Mashhad. 2012.
   Google Scholar
• Hosseinpour Feizi MA, Hosseinpour Feizi AA, Pouladi N, et al. Molecular spectrum of beta-thalassemia mutations in Northwestern Iran. Hemoglobin. 2008;32(3):255–261. doi:10.1080/03630260802004145.
   PubMed Web of Science ®Google Scholar
• Khodaei H, Zeinali C, Delmaghani S. Molecular studies on Beta-Thalassemia mutations in Bushehr province. 2001.
   Google Scholar
• Kiani AA, Mortazavi Y, Zeinali S, et al. The molecular analysis of β-thalassemia mutations in Lorestan Province, Iran. Hemoglobin. 2007;31(3):343–349. doi:10.1080/03630260701459382.
   PubMed Web of Science ®Google Scholar
• Mehrabi M, Alibakhshi R, Fathollahi S, et al. The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters. Hemoglobin. 2013;37(6):544–552. doi:10.3109/03630269.2013.814036.
   PubMed Web of Science ®Google Scholar
• Miri Moghadam E, Taroovi Nejad M, Eshghi P, et al. Molecular basis and prenatal diagnosis of B-thalassemia in southeast if Iran. J Mazandaran Univ Med Sciences 2005;15(48):105–111.
   Google Scholar
• Miri-Moghaddam E, Zadeh-Vakili A, Nikravesh A, et al. Sistani population: a different spectrum of β-thalassemia mutations from other ethnic groups of Iran. Hemoglobin. 2013;37(2):138–147. doi:10.3109/03630269.2013.769886.
   PubMed Web of Science ®Google Scholar
• Rahim F. Spectrum of β-Thalassemia mutations in various Ethnic Regions of Iran. Pak J Med Sci. 2008;24:410–415.
   Web of Science ®Google Scholar
• 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. doi:10.1016/j.blre.2016.07.001.
   PubMed Web of Science ®Google Scholar
• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–1069. doi:10.1093/nar/gkt911.
   PubMed Web of Science ®Google Scholar
• Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196. doi:10.1093/nar/gkaa959.
   PubMed Web of Science ®Google Scholar
• den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37(6):564–569. doi:10.1002/humu.22981.
   PubMed Web of Science ®Google Scholar
• Hamid M, Nejad LD, Shariati G, et al. The first report of a 290-bp deletion in β-Globin gene in the South of Iran. Iran Biomed J. 2017;21(2):126–128. doi:10.18869/acadpub.ibj.21.2.126.
   PubMedGoogle Scholar
• el-Hashemite N, Petrou M, Khalifa AS, et al. Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population. Hum Genet. 1997;99(2):271–274. doi:10.1007/s004390050352.
   PubMed Web of Science ®Google Scholar
• Galehdari H, Bijanzadeh M, Azarshin SZ, et al. Design and development of reverse slot blot for the simultaneous detection of rare and regional specific mutations in the beta globin gene in Khuzestan province of Iran. Ind J Hematol Blood Transfus. 2021;37(3):436–441. doi:10.1007/s12288-020-01358-w.
   PubMed Web of Science ®Google Scholar
• Esteghamat F, Imanian H, Azarkeivan A, et al. Screening of Iranian thalassemic families for the most common deletions of the beta-globin gene cluster. Hemoglobin. 2007;31(4):463–469. doi:10.1080/03630260701641286.
   PubMed Web of Science ®Google Scholar
• Mehri M, Zarin M, Ardalani F, et al. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. Blood Cells Mol Dis. 2018;71:39–44. doi:10.1016/j.bcmd.2018.02.002.
   PubMed Web of Science ®Google Scholar
• Neishabury M, Azarkeivan A, Mehri M, et al. The first case of BENTA disease (B Cell expansion with NF-kappaB and T Cell Anergy) from Iran. J Clin Immunol. 2021;41(4):811–813. doi:10.1007/s10875-021-00965-0.
   PubMed Web of Science ®Google Scholar
• Neishabury M, Mehri M, Fattahi Z, et al. Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes. Haematologica. 2020;105(1):e1–e4. doi:10.3324/haematol.2019.216069.
   PubMed Web of Science ®Google Scholar
• Godbout K, Tremblay JP. Prime editing for human gene therapy: where are we now? Cells. 2023;12(4):536. doi:10.3390/cells12040536.
   PubMed Web of Science ®Google Scholar
• Arif T, Farooq A, Ahmad FJ, et al. Prime editing: a potential treatment option for beta-thalassemia. Cell Biol Int. 2023;47(4):699–713. doi:10.1002/cbin.11972.
   PubMed Web of Science ®Google Scholar
• Grech L, Borg K, Borg J. Novel therapies in beta-thalassaemia. Br J Clin Pharmacol. 2022;88(6):2509–2524. doi:10.1111/bcp.14918.
   PubMed Web of Science ®Google Scholar
• Hardouin G, Antoniou P, Martinucci P, et al. Adenine base editor-mediated correction of the common and severe IVS1-110 (G > A) beta-thalassemia mutation. Blood. 2023;141(10):1169–1179. doi:10.1182/blood.2022016629.
   PubMed Web of Science ®Google Scholar