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Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 6
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Brief Reports

Identification of a Novel Mutation in the 3′ Untranslated Region of the β-Globin Gene (HBB:c.*132C>G) in a Chinese Family

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Pages 347-350 | Received 05 Oct 2022, Accepted 29 Jan 2023, Published online: 21 Feb 2023

References

  • Origa R. β-Thalassemia. Genet Med. 2017;19(6):609–619.
  • Thein SL. Molecular basis of β thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54–65.
  • Vainberg Slutskin I, Weinberger A, Segal E. Sequence determinants of polyadenylationmediated regulation. Genome Res. 2019;29(10):1635–1647.
  • Chen JM, Férec C, Cooper DN. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet. 2006;120(1):1–21.
  • Chen JM, Férec C, Cooper DN. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants. Hum Genet. 2006;120(3):301–333.
  • Nalpathamkalam T, Derkach A, Paterson AD, et al. Genetic Analysis Workshop 18 singlenucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation. BMC Proc. 2014;8:S11.
  • Conne B, Stutz A, Vassalli JD. The 3' untranslated region of messenger RNA: a molecular ‘hotspot’ for pathology? Nat Med. 2000;6(6):637–641.
  • Arpaci A, Gul BU, Ozcan O, et al. Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey. Ann Hematol. 2021;100(6):1429–1438.
  • Jiang F, Chen GL, Li J, et al. β-Thalassemia intermedia caused by the β-Globin Gene 3′ untranslated region: another case report. Hemoglobin. 2022;46(2):137–139.
  • Sen A, Seenappa V, Chakrabarti P, et al. First Report of the 3′-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-globin gene in the indian population. Hemoglobin. 2021;45(5):325–328.
  • Hino M, Ito H, Yamashiro Y, et al. The +1,506(A>C) mutation in the 3′ untranslated region affects β-globin expression. Hemoglobin. 2012;36(4):399–406.
  • Herrera MA, De La Fuente-Gonzalo F, González FA, et al. Identification of a novel mutation in the β-globin gene 3′ untranslated region (HBB: c.*+118A>G) in Spain. Hemoglobin. 2015;39(1):30–35.
  • Sripusanapan A, Phusua A, Fanhchaksai K, et al. Compound heterozygosity of a silent beta-thalassemia mutation at the 3′-untranslated region (HBB: c.*132C>T) and beta-zero thalassemia results in thalassemia intermedia. Pediatr Blood Cancer. 2020;67(4):e28157.
  • Bilgen T, Clark OA, Ozturk Z, et al. Two novel mutations in the 3′ untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia. Int J Lab Hematol. 2013;35(1):26–30.
  • Torre LDCR, Díaz FJP, Cortés BI, et al. Three Mexican Families with β thalassemia intermedia with different molecular basis. Genet Mol Biol. 2020;42(4):e20190032.
  • Heath JA, Beaverson K, Giardina P, et al. A novel beta-thalassemia intermedia phenotype containing Nt494 + 129T>C and NT494 + 132C>A mutations in cis and a Nt168C>T (beta(o) 39 point) mutation in trans. Am J Hematol. 2001;67(1):57–58.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
  • He J, Song W, Yang J, et al. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. Genet Med. 2017;19(9):1022–1031.
  • Zhang H, Li C, Li J, et al. Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China. J Clin Lab Anal. 2019;33(4):e22845.
  • Zhao J, Li J, Lai Q, et al. Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China. J Clin Pathol. 2020;73(8):488–492.
  • Lam TT, Nguyen DT, Le QT, et al. Combined gap-polymerase chain reaction and targeted next-generation sequencing improve α- and β-Thalassemia carrier screening in pregnant women in Vietnam. Hemoglobin. 2022;46(4):233–239.

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