A Novel Base Change Leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]

Matthew J. GoodyerDepartment of Haematology, University College Hospital, Galway, Republic of IrelandCorrespondence[email protected]

Ezzat I. ElhassadiDepartment of Haematology, University College Hospital, Galway, Republic of Ireland

Melanie J. PercyDepartment of Haematology, Belfast City Hospital, Belfast, Northern Ireland

Mary F. McMullinDepartment of Haematology, Belfast City Hospital, Belfast, Northern Ireland

Abstract

We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine.

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A Novel Base Change Leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]

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A Novel Base Change Leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]

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