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

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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.

Original languageEnglish (US)
Pages (from-to)22-27
Number of pages6
JournalHemoglobin
Volume35
Issue number1
DOIs
StatePublished - Feb 1 2011

Keywords

  • Abnormal hemoglobin (Hb)
  • Erythrocytosis
  • High oxygen affinity Hb
  • Oxygen dissociation curve

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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