Autor: |
Nabhani, Ibrahim Al, Aneke, John C., Verhovsek, Madeleine, Eng, Barry, Kuo, Kevin H.M., Rudinskas, Leona C., Waye, John S. |
Předmět: |
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Zdroj: |
Hemoglobin; Jan2020, Vol. 44 Issue 1, p10-12, 3p |
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. [ABSTRACT FROM AUTHOR] |
Databáze: |
Complementary Index |
Externí odkaz: |
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