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Research Article

First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

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References

  • Clarke GM, Higgins TN. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin Chem. 2000 Aug;46(8 Pt 2):1284–90. PMID:10926923.
  • Thom CS, Dickson CF, Gell DA, et al. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harbor Perspect Med. 2013;3:a011858.
  • Chan NC, Chow K-H, Leung RF, et al. First Report of Hb Kent [β37 (C3) Trp→ Cys (TG G> TG C) HBB: c. 114G> C] in a Chinese Family. Hemoglobin. 2017;41:283–285.
  • Ma ESK, Chan AYY, Lee ACW. Molecular Characterization of Hb Val de Marne [α133 (H16) Ser→ Arg; AG C→ AG A;(α2)] in a Chinese Family. Hemoglobin. 2004;28:213–216.
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32:327–349.
  • Yin A, Zhang L, Luo M, et al. Development of bead-based suspension array technology for the diagnosis of thalassemia. Am J Hematol. 2014 Dec;89(12):1158–1159. doi: 10.1002/ajh.23830. PMID: 25118110.
  • Qin D, Du L, Wang J, et al. Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients. J Int Med Res. 2020;48:0300060520967825.
  • Wajcman H, Kister J, M'rad A, et al. Hb Val de Marne [α133 (H16) Ser→ Arg]: a new hemoglobin variant with moderate increase in oxygen affinity. Hemoglobin. 1993;17:407–417.
  • Owen M, Hendy J. Hb Footscray or α133 (H16) Ser→ Arg: a new hemoglobin variant. Hemoglobin. 1994;18:19–27.
  • Akbari MT, Hamid M. (2012). Identification of α-globin chain variants: A report from Iran.
  • Okumura J, Shimauti E, Silva D, et al. Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report. Genetics and Molecular Research: GMR. 14 Jul 2016;vol. 15,2; doi:10.4238/gmr.15028294
  • Chen W-D, Ren Y-X, Wang Y-J, et al. Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52 (E1) Ser→ Cys (TC T> TGT); HBA1: c. 158C> G], and the––SEA (Southeast Asian) α-Thalassemia Deletion. Hemoglobin. 2019;43:286–288.