TY - JOUR
T1 - 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]
T2 - Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]
AU - Al Nabhani, Ibrahim
N1 - Publisher Copyright:
© 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2020/3/9
Y1 - 2020/3/9
N2 - 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.
AB - 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.
KW - Erythrocytosis
KW - hemoglobin (Hb) variant
KW - high oxygen affinity
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U2 - 10.1080/03630269.2020.1720711
DO - 10.1080/03630269.2020.1720711
M3 - Article
SN - 0363-0269
VL - 44
SP - 10
EP - 12
JO - Hemoglobin
JF - Hemoglobin
IS - 1
ER -