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

Autor: Nabhani IA; Department of Medicine, University of Toronto, Toronto, Canada.; Faculty of Medicine, Nnamdi Azikiwe University, Awka, Nigeria., Aneke JC; Department of Medicine, University of Toronto, Toronto, Canada., Verhovsek M; Department of Medicine, McMaster University, Hamilton, Canada.; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.; Hamilton Regional Laboratory Medicine Program, Hamilton, Canada., Eng B; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.; Hamilton Regional Laboratory Medicine Program, Hamilton, Canada., Kuo KHM; Department of Medicine, University of Toronto, Toronto, Canada., Rudinskas LC; Specialist in Hematology and Medical Oncology, Weston, Canada., Waye JS; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.; Hamilton Regional Laboratory Medicine Program, Hamilton, Canada.
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2020 Jan; Vol. 44 (1), pp. 10-12. Date of Electronic Publication: 2020 Mar 09.
DOI: 10.1080/03630269.2020.1720711
Abstrakt: 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.
Databáze: MEDLINE
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