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

Hemoglobin
Ibrahim Al NabhaniJohn S Waye

Abstract

We report the case of a 61-year-old Canadian male of Maltese descent investigated for unexplained polycythemia. Decreased p50 suggested the presence of a high oxygen affinity hemoglobin (Hb) variant. Molecular genetic testing demonstrated that he carries a novel missense mutation (HBB: c.258T>G), resulting in a Phe→Leu substitution at position 85 of the β chain. The novel Hb variant has been designated Hb Kennisis in recognition of where the proband resides. Two other missense mutations have been reported at this position [Hb Bryn Mawr or Hb Buenos Aires, β85(F1)Phe→Ser (HBB: c.257T>C); Hb Grantham, β85(F1)Phe→Cys; (HBB: c.257T>G)], both of which have increased oxygen affinity.

References

Jan 1, 1973·Acta Haematologica·B I De WeinsteinH Lehmann
Jul 1, 1995·Protein Science : a Publication of the Protein Society·K AdachiS Surrey
Oct 17, 2003·Hematology/oncology Clinics of North America·Josef T Prchal
Jan 16, 2007·Human Mutation·Belinda GiardineGeorge P Patrinos
Apr 23, 2013·Therapeutic Advances in Hematology·Mary Frances McMullin
May 24, 2018·American Journal of Hematology·Jennifer L OliveiraJames D Hoyer
Jan 29, 2019·American Journal of Hematology·Jovana Yudin, Madeleine Verhovsek

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