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 Nabhani,John Chinawaeze Aneke,Madeleine Verhovsek,Barry Eng,Kevin H.M. Kuo,Leona C. Rudinskas,John S. Waye

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

2020

Ibrahim Al Nabhani
John Chinawaeze Aneke
Madeleine Verhovsek
Barry Eng
Kevin H.M. Kuo
Leona C. Rudinskas
John S. Waye

AbstractWe 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...

Keywords:

Molecular biology
Biology
P50
High-oxygen-affinity hemoglobin
oxygen affinity
Proband
Hemoglobin
molecular genetic testing
Hb Buenos Aires
Missense mutation

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