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1. Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon.

Author

Hoyer JD, Wendt PC, Hogan WJ, and Oliveira JL

Subjects
Alanine genetics, Base Sequence, Codon, Female, Humans, Isoleucine genetics, Middle Aged, Molecular Sequence Data, Mutation, Nebraska, Nucleotides, Polycythemia genetics, Amino Acid Substitution, Globins genetics, Hemoglobins, Abnormal genetics, Hemoglobins, Abnormal metabolism, Oxygen metabolism
Abstract

A new high oxygen affinity hemoglobin (Hb) variant, Hb Nebraska [β86(F2)Ala→Ile, GCC>ATC; HGVS: HBB: c.259G>A;260C>T] is reported. This variant was not identified by routine methods and was only suspected due to erythrocytosis and an abnormal p50 value. The variant was analyzed by DNA sequencing and mass spectrometry (MS). The β chain variant is unusual in that it has two nucleotide substitutions occurring at the same codon.

Published
2011
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