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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8 Citations (Scopus)

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 2011

Fingerprint

Codon
Hemoglobins
Substitution reactions
Nucleotides
Oxygen
Polycythemia
DNA Sequence Analysis
Mass spectrometry
Mass Spectrometry
DNA

Keywords

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

ASJC Scopus subject areas

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

Cite this

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title = "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",
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.",
keywords = "Abnormal hemoglobin (Hb), Erythrocytosis, High oxygen affinity Hb, Oxygen dissociation curve",
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AU - Oliveira, Jennifer

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KW - Oxygen dissociation curve

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