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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
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Original Articles

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Ibrahim Al NabhaniDepartment of Medicine, University of Toronto, Toronto, Canada; ;Faculty of Medicine, Nnamdi Azikiwe University, Awka, Nigeria;
,
John C. AnekeDepartment of Medicine, University of Toronto, Toronto, Canada;
,
Madeleine VerhovsekDepartment of Medicine, McMaster University, Hamilton, Canada; ;Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada; ;Hamilton Regional Laboratory Medicine Program, Hamilton, Canada;
,
Barry EngDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada; ;Hamilton Regional Laboratory Medicine Program, Hamilton, Canada;
,
Kevin H.M. KuoDepartment of Medicine, University of Toronto, Toronto, Canada;
,
Leona C. RudinskasSpecialist in Hematology and Medical Oncology, Weston, Canada
&
John S. WayeDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada; ;Hamilton Regional Laboratory Medicine Program, Hamilton, Canada; Correspondence[email protected]
 show all
Pages 10-12 | Received 13 Dec 2019, Accepted 06 Jan 2020, Published online: 09 Mar 2020

References

  • Giardine B, van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206 (http://globin.cse.psu.edu). Accessed November 1 2019.
  • Bradley TB, Wohl RC, Murphy SB, et al. Properties of Hemoglobin Bryn Mawr, β85 Phe→Ser, a new spontaneous mutation producing an unstable hemoglobin with high oxygen affinity. Blood. 1972;40(6):947.
  • De Weinstein BI, White JM, Wiltshire BG, et al. A new unstable haemoglobin: Hb Buenos Aires, β85 (F1) Phe→Ser. Acta Haematol. 1973;50(6):357–363.
  • Henderson SJ, Timbs AT, McCarthy J, et al. Ten years of routine α- and β-globin gene sequencing in UK hemoglobinopathy referrals reveals 60 novel mutations. Hemoglobin. 2016;40(2):75–84.
  • Prchal JT. Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis. Hematol Oncol Clin North Am. 2003;17(5):1151–1158.
  • Wajcman H, Galactéros F. Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. Hemoglobin. 2005;29(2):91–106.
  • Oliveira JL, Coon LM, Frederick LA, et al. Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience. Am J Hematol. 2018;93(8):1029–1041.
  • Pagano L, Salzano AM, Carbone V, et al. Hb Cardarelli [β86(F2)Ala→Pro]: a new unstable and hyperaffine variant in association with β+-thalassemia. Hemoglobin. 2004;28(2):103–115.
  • Lacombe C, Craescu CT, Blouquit Y, et al. Structural and functional studies of Hemoglobin Poissy α2β256(D7)Gly→Arg and β86(F2)Ala→Pro. Eur J Biochem. 1985;153(3):655–662.
  • Hoyer JD, Wendt PC, Hogan WJ, et al. Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon. Hemoglobin. 2011;35(1):22–27.
  • Indrak K, Wiedermann BF, Batek F, et al. Hb Olomouc or α2β286(F2)Ala→Asp, a new high oxygen affinity variant. Hemoglobin. 1987;11(2):151–155.
  • Adachi K, Reddy LR, Surrey S. Mutational analysis of phenylalanine β85 in the valine β6 acceptor pocket during hemoglobin S polymerization. Protein Sci. 1995;4(7):1272–1278.
  • Winslow RM, Butler WM, Kark JA, et al. The effect of bloodletting on exercise performance in a subject with a high affinity hemoglobin variant. Blood. 1983;62(6):1159–1164.
  • McMullin MF. Diagnosis and management of congenital and idiopathic erythrocytosis. Ther Adv Hematol. 2012;3(6):391–398.
  • Yudin J, Verhovsek M. How we diagnose and manage altered oxygen affinity hemoglobin variants. Am J Hematol. 2019;94(5):597–603.

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