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Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 2
168
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Research Articles

Hb Kirikiriroa [α57(E6)Gly→Cys; HBA1: c.172G>T]: A Novel Unstable α-Globin Variant with Oxidized Derivatives Interfering with Hb A1c

ORCID Icon, ORCID Icon, , &
Pages 81-86 | Received 04 Mar 2022, Accepted 19 Apr 2022, Published online: 11 Aug 2022

References

  • Little RR, La'ulu SL, Hanson SE, et al. Effects of 49 different rare Hb variants on HbA1c measurement in eight methods. J Diabetes Sci Technol. 2015;9(4):849–856.
  • Bry L, Chen PC, Sacks DB. Effects of hemoglobin variants and chemically modified derivatives on assays for glycohemoglobin. Clin Chem. 2001;47(2):153–163.
  • Brennan SO, Povall A, Lankes U. Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A>C], a novel, mildly unstable variant and the first substitution identified at codon 12. Hemoglobin. 2014;38(2):79–83.
  • Brennan SO, Wang D, Horridge M, et al. Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: a hyperunstable variant due to a new mutation on the α1 gene. Hemoglobin. 2017;41(2):140–143.
  • Fay KC, Brennan SO, Costello JM, et al. Haemoglobin Manukau beta 67[E11] Val→Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia. Br J Haematol. 1993;85(2):352–355.
  • Thillet J, Cohen-Solal M, Seligmann M, et al. Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron. J Clin Invest. 1976;58(5):1098–1106.
  • Sansone G, Carrell R, Lehmann H. Haemoglobin Genova: beta-28 (B10) leucine replaced by proline. Nature. 1967;214(5091):877–879.
  • Carrell R, Lehmann H, Lorkin P, et al. Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. Nature. 1967;215(5101):626–628.
  • Molchanova TP, Postnikov YuV, Pobedimskaya DD, et al. Hb Alesha or α2β267(E11)Val→Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA. Hemoglobin. 1993;17(3):217–225.
  • The PyMOL Molecular Graphics System, Version 2.4 Schrödinger, LLC. Available at: https://pymol.org/2/
  • Berman HM, Westbrook J, Feng Z, et al. The protein data bank. Nucleic Acids Res. 2000;28(1):235–242.
  • Fermi G, Perutz MF, Shaanan B, et al. The crystal structure of human deoxyhaemoglobin at 1.74 A resolution. J Mol Biol. 1984;175(2):159–174.
  • 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–D1069.
  • Rahbar S, Kinderlerer JL, Lehmann H. Haemoglobin L Persian Gulf: alpha-57 (E6) glycine leads to arginine. Acta Haematol. 1969;42(3):169–175.
  • Ager JA, Lehmann H, Vella F. Haemoglobin Norfolk: a new haemoglobin found in an English family with observations on the naming of new haemoglobin variants. Br Med J. 1958;2(5095):539–541.
  • Baglioni C. A chemical study of hemoglobin Norfolk. J Biol Chem. 1962;237:69–74.
  • Imamura T. Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family. Am J Hum Genet. 1966;18(6):584–593.
  • Nair SB, Athalye AS, Madon PF, et al. Hematological and molecular findings in the first case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian patient. Hemoglobin. 2018;42(5–6):333–335.
  • Beutler E, Lang A, Lehmann H. Hemoglobin Duarte: (alpha2beta2 62(E6)Ala leads to Pro): a new unstable hemoglobin with increased oxygen affinity. Blood. 1974;43(4):527–535.
  • Kiger L, Kister J, Groff P, et al. Hb J-Europa [β 62(E6)Ala→Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme. Hemoglobin. 1996;20(2):135–140.

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