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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
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Short Communication

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C]

Etienne MondesertDepartment of Biological Hematology, CHU Montpellier, Montpellier, France;
,
Muriel Giansily BlaizotDepartment of Biological Hematology, CHU Montpellier, Montpellier, France;
,
Olivier TournilhacDepartment of Clinical Hematology, CHU Clermont-Ferrand, Clermont-Ferrand, France;
,
Anne François Serre SapinDepartment of Biological Hematology, CHU Clermont-Ferrand, Clermont-Ferrand, France;
,
Bernard AubinDepartment of Internal Medicine, CH Moulins Yzeure, Moulins, France;
,
Jean-Luc PellequerInstitute of Structural Biology, University of Grenoble Alpes, CEA, CNRS, Grenoble, France
&
Patricia Aguilar MartinezDepartment of Biological Hematology, CHU Montpellier, Montpellier, France; Correspondence[email protected]
 show all
Pages 13-16 | Received 24 Oct 2019, Accepted 16 Jan 2020, Published online: 03 Feb 2020

References

  • Renoux C, Feray C, Joly P, et al. Description of three new α variants and four new β variants: Hb Montluel [α110(G17)Ala→Val; HBA1: c.332C>T], Hb Cap d’Agde [α131(H14)Ser→Cys; HBA2: c.395C>G] and Hb Corsica [α100(G7)Leu→Pro; HBA1: 302T>C]; Hb Nîmes [β104(G6)Arg→Gly; HBB: c.313A>G], Hb Saint Marcellin [β112(G14)Cys→Gly; HBB: c.337T>G], Hb Saint Chamond [β80(EF4)Asn→0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly→Arg; HBB: c.88G>C]. Hemoglobin. 2015;39(3):147–151.
  • Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu).
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  • Bain BJ, Bates I, Laffan MA. Investigation of variant haemoglobins and thalassaemias. Dacie and Lewis Practical Haematology E-book-de. 12th ed. London (UK): Elsevier Publishing Company; 2017. p. 309–310.
  • Ittisoponpisan S, Islam SA, Khanna T, et al. Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated? J Mol Biol. 2019;431(11):2197–2212.
  • Tame JRH, Vallone B. The structures of deoxy human haemoglobin and the mutant Hb Tyrα42His at 120 K. Acta Crystallogr D Biol Crystallogr. 2000;56(7):805–811.
  • Thein SL, Best S, Sharpe J, et al. Hemoglobin Chesterfield (β 28 Leu–Arg) produces the phenotype of inclusion body β thalassemia. Blood. 1991;77(12):2791–2793.
  • Chen SW, Pellequer JL. Identification of functionally important residues in proteins using comparative models. Curr Med Chem. 2004;11(5):595–605.
  • Toniolo M, Ceschi A, Meli M, et al. Haemolytic anaemia and abdominal pain – a cause not to be missed. Br J Clin Pharmacol. 2011;72(1):168–169.

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