Identification of a novel 91.5 kb-deletion (αα)^FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing

References

• Kattamis A, Kwiatkowski JL, Aydinok Y. Thalassaemia. Lancet. 2022;399(10343):2310–2324. doi: 10.1016/S0140-6736(22)00536-0.
   PubMed Web of Science ®Google Scholar
• Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5(1):13. doi: 10.1186/1750-1172-5-13.
   PubMed Web of Science ®Google Scholar
• Piel FB, Weatherall DJ. The α-thalassemias. N Engl J Med. 2014;371(20):1908–1916. doi: 10.1056/NEJMra1404415.
   PubMed Web of Science ®Google Scholar
• Lai K, Huang G, Su L, et al. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Sci Rep. 2017;7(1):920. doi: 10.1038/s41598-017-00967-2.
   PubMed Web of Science ®Google Scholar
• Huang H, Xu L, Chen M, et al. Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China. Sci Rep. 2019;9(1):3493. doi: 10.1038/s41598-019-40089-5.
   PubMedGoogle Scholar
• Huang R, Liu Y, Xu J, et al. Back-to-back comparison of third-generation sequencing and next-generation sequencing in carrier screening of thalassemia. Arch Pathol Lab Med. 2023;11:1199609. doi: 10.5858/arpa.2022-0168-OA.
   Google Scholar
• Wenger AM, Peluso P, Rowell WJ, et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019;37(10):1155–1162. doi: 10.1038/s41587-019-0217-9.
   PubMed Web of Science ®Google Scholar
• Xu L, Mao A, Liu H, et al. Long-Molecule sequencing: a new approach for identification of clinically significant DNA variants in α-thalassemia and β-thalassemia carriers. J Mol Diagn. 2020;22(8):1087–1095. doi: 10.1016/j.jmoldx.2020.05.004.
   PubMed Web of Science ®Google Scholar
• Liu Y, Chen M, Liu J, et al. Comprehensive analysis of congenital adrenal hyperplasia using long-read sequencing. Clin Chem. 2022;68(7):927–939. doi: 10.1093/clinchem/hvac046.
   PubMed Web of Science ®Google Scholar
• Liang Q, Liu Y, Liu Y, et al. Comprehensive analysis of fragile X syndrome: full characterization of the FMR1 locus by long-read sequencing. Clin Chem. 2022;68(12):1529–1540. doi: 10.1093/clinchem/hvac154.
   PubMed Web of Science ®Google Scholar
• Liang Q, Gu W, Chen P, et al. A more universal approach to comprehensive analysis of thalassemia alleles (CATSA). J Mol Diagn. 2021;23(9):1195–1204. doi: 10.1016/j.jmoldx.2021.06.008.
   PubMed Web of Science ®Google Scholar
• Luo S, Chen X, Zeng D, et al. Detection of four rare thalassemia variants using single-molecule realtime sequencing. Front Genet. 2022;13:974999. doi: 10.3389/fgene.2022.974999.
   PubMed Web of Science ®Google Scholar
• Higgs DR, Wood WG, Jarman AP, et al. A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev. 1990;4(9):1588–1601. doi: 10.1101/gad.4.9.1588.
   PubMed Web of Science ®Google Scholar
• Badat M, Davies JOJ, Fisher CA, et al. A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression. Blood. 2021;137(4):572–575. doi: 10.1182/blood.2020006680.
   PubMed Web of Science ®Google Scholar
• Mettananda S, Fisher CA, Hay D, et al. Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia. Nat Commun. 2017;8(1):424. doi: 10.1038/s41467-017-00479-7.
   PubMedGoogle Scholar
• Higgs DR, Vernimmen D, Wood B. Long-range regulation of alpha-globin gene expression. Advances in Genetics. 2008;61:143–173.
   PubMed Web of Science ®Google Scholar
• Luo S, Chen X, Zhong Q, et al. Analysis of rare thalassemia caused by HS-40 regulatory site deletion. Hematology. 2020;25(1):286–291. doi: 10.1080/16078454.2020.1799587.
   PubMed Web of Science ®Google Scholar
• Coelho A, Picanço I, Seuanes F, et al. Novel large deletions in the human alpha-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis. 2010;45(2):147–153. doi: 10.1016/j.bcmd.2010.05.010.
   PubMed Web of Science ®Google Scholar
• Flint J, Craddock CF, Villegas A, et al. Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet. 1994;55(3):505–512.
   PubMed Web of Science ®Google Scholar
• Li Z, Shang X, Luo S, et al. Characterization of two novel alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing. Mol Genet Genomics. 2020;295(2):505–514. doi: 10.1007/s00438-019-01637-w.
   PubMed Web of Science ®Google Scholar
• Jiang F, Xu LL, Tang XW, et al. A novel deletion of the major regulatory element flanking the α-globin gene cluster as a cause of α0-thalassemia. Int J Lab Hematol. 2021;43(4):O190–O192. doi: 10.1111/ijlh.13505.
   PubMed Web of Science ®Google Scholar
• Cheng Y, Cai D, Shang X, et al. A combination of the (αα)GZ and --SEA deletions causing a severe form of hemoglobin H disease. Int J Lab Hematol. 2020;42(2):e80–e83. doi: 10.1111/ijlh.13122.
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Harteveld CL, Ayyub H, et al. A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood. 2006;107(9):3811–3812. doi: 10.1182/blood-2005-12-4834.
   PubMed Web of Science ®Google Scholar
• Huang LY, Yan JM, Zhou JY, et al. A severe case of hemoglobin H disease due to compound heterozygosity for deletion of the major α-globin regulatory element (MCS-R2) and α0-thalassemia. Acta Haematol. 2017;138(1):61–64. doi: 10.1159/000477531.
   PubMed Web of Science ®Google Scholar
• Ferrão J, Silva M, Gonçalves L, et al. Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia. Ann Hematol. 2017;96(11):1921–1929. doi: 10.1007/s00277-017-3090-y.
   PubMed Web of Science ®Google Scholar
• Nezhat N, Akbari MT. Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers. 2012;16(7):684–688. doi: 10.1089/gtmb.2011.0251.
   PubMed Web of Science ®Google Scholar
• Achour A, Koopmann TT, Baas F, et al. The evolving role of Next-Generation sequencing in screening and diagnosis of hemoglobinopathies. Front Physiol. 2021;12:686689. doi: 10.3389/fphys.2021.686689.
   PubMed Web of Science ®Google Scholar
• Roberts RJ, Carneiro MO, Schatz MC. The advantages of SMRT sequencing. Genome Biol. 2013;14(7):405. doi: 10.1186/gb-2013-14-6-405.
   PubMed Web of Science ®Google Scholar
• Xiao T, Zhou W. The third generation sequencing: the advanced approach to genetic diseases. Transl Pediatr. 2020;9(2):163–173. doi: 10.21037/tp.2020.03.06.
   PubMed Web of Science ®Google Scholar
• Xu XM. Guidelines for thalassemia prevention and control programme. Beijing: People’s Military Medical Press; 2011.
   Google Scholar
• Capasso S, Cardiero G, Musollino G, et al. Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5′ boundary region. PLoS Genet. 2023;19(5):e1010727. doi: 10.1371/journal.pgen.1010727.
   PubMed Web of Science ®Google Scholar
• Velasco-Rodríguez D, Blas C, Alonso-Domínguez JM, et al. Cut-Off values of hematologic parameters to predict the number of alpha genes deleted in subjects with deletional alpha thalassemia. Int J Mol Sci. 2017;18(12):2707. doi: 10.3390/ijms18122707.
   PubMed Web of Science ®Google Scholar