Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 2
72
Views
0
CrossRef citations to date
0
Altmetric
Brief Communications

A New Hemoglobin Variant, Hb Natal (HBA1: c.423C>A), Found in a Greek Family

, , , , &
Pages 132-136 | Received 28 Jan 2022, Accepted 29 Apr 2022, Published online: 24 Aug 2022

References

  • Jogessar VB, Westermeyer K, Webber BB, et al. Hb Natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140. Biochim Biophys Acta. 1988;951(1):36–41.
  • Harteveld CL. State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. Int J Lab Hematol. 2014;36(1):1–12.
  • Kilmartin JV, Arnone A, Fogg J. Specific modification of the α chain C-terminal carboxyl group of hemoglobin by trypsin-catalyzed hydrazinolysis. Biochemistry. 1977;16(24):5393–5397.
  • Kneipp J, Balakrishnan G, Chen R, et al. Dynamics of allostery in hemoglobin: roles of the penultimate tyrosine H bonds. J Mol Biol. 2006;356(2):335–353.
  • Horri-Naceur A, Timson DJ. In silico analysis of the effects of point mutations on α-globin: implications for α-thalassemia. Hemoglobin. 2020;44(2):89–103.
  • Ishimori K, Hashimoto M, Imai K, et al. Site-directed mutagenesis in hemoglobin: functional and structural role of the penultimate tyrosine in the α subunit. Biochemistry. 1994;33(9):2546–2553.
  • Domingues-Hamdi E, Vasseur C, Fournier J-B, et al. Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule. PLOS One. 2014;9(11):e111395.
  • Chakane S, Markad V, Kodam K, et al. The penultimate tyrosine residues are critical for the genotoxic effect of human hemoglobin. Adv Exp Med Biol. 2017;977:351–357.
  • Bain B, Wild B, Stephens A, et al., editors. Variant haemoglobins. A guide to identification. London (UK): Wiley-Blackwell; 2010.
  • 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.
  • Traeger-Synodinos J, Harteveld CL. Advances in technologies for screening and diagnosis of hemoglobinopathies. Biomark Med. 2014;8(1):119–131.
  • Theodoridou S, Prapas N, Balassopoulou A, et al. Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-year experience, practice and policy gaps for natives and migrants. Hemoglobin. 2018;42(4):257–263.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.