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Hemoglobin
international journal for hemoglobin research
Volume 48, 2024 - Issue 2
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Brief Reports

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

John S. Wayea Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada;b Department of Pathology and Molecular Medicine, McMaster University, Hamilton, CanadaCorrespondence[email protected]
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,
Meredith Hannaa Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, CanadaView further author information
,
Lisa Nakamuraa Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, CanadaView further author information
,
Lynda Walkera Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, CanadaView further author information
,
Barry Enga Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada;b Department of Pathology and Molecular Medicine, McMaster University, Hamilton, CanadaView further author information
&
Landry E. Nfonsama Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada;b Department of Pathology and Molecular Medicine, McMaster University, Hamilton, CanadaView further author information
Pages 116-117 | Received 29 Nov 2023, Accepted 24 Jan 2024, Published online: 15 Feb 2024

References

  • Yang Y, Lu Y, Huang J. First report of a Chinese boy carrying a novel β-thalassemia mutation IVS-I-129 (HBB:c.93-2A > T). The 13th Congress of Asian Society for Pediatric Research, October 6-8, 2017. Hong Kong (abstract 1803).
  • Atweh GF, Anagnou NP, Shearin J, et al. β-Thalassemia resulting from a single nucleotide substitution in an acceptor splice site. Nucleic Acids Res. 1985;13(3):777–790. doi: 10.1093/nar/13.3.777.
  • Kountouris P, Lederer CW, Fanis P, et al. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLOS One. 2014;9(7):e103020. https://ithanet.eu/db/ithagenes). doi: 10.1371/journal.pone.0103020.
  • 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:D1063–D1069. https://globin.bx.psu.edu/hbvar/hbvar.html). doi: 10.1093/nar/gkt911.
  • Vetter B, Schwarz C, Kohne E, et al. β-Thalassemias in immigrant and non-immigrant German populations. Br J Haematol. 1997;97(2):266–272. doi: 10.1046/j.1365-2141.1997.342674.x.
  • Agarwal S, Tamhankar PM, Kumar R, et al. Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major. Int J Lab Hematol. 2010;32(3):369–372. doi: 10.1111/j.1751-553X.2009.01157.x.
  • Deidda G, Novelletto A, Hafez M, et al. A new β-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus site (AG→AA). Hemoglobin. 1990;14(4):431–440. doi: 10.3109/03630269009032003.
  • Renda M, Maggio A, Warren TC, et al. Detection of an IVS-1 3ꞌ end (G-C) β-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject. Genomics. 1992;13(1):234–235. doi: 10.1016/0888-7543(92)90232-h.
  • 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. doi: 10.1038/gim.2015.30.
  • Kountouris P, Stephanou C, Lederer CW, et al. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022;43(8):1089–1096. doi: 10.1002/humu.24280.

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