Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity

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Abstract

We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the HBB gene [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)], predictive of a substitution of arginine to threonine at position 40 of the β-globin protein. This amino acid substitution involves the α1β2 contact and occurs at the same position as Hb Austin [β40(C6)Arg→Ser; HBB: c.[123G>C or 123G>T] (p.Arg41Ser)] and Hb Athens-GA [β40(C6)Arg→Lys; HBB: c.122G>A (p.Arg41Lys)], both of which show increased oxygen affinity.

Original languageEnglish (US)
Pages (from-to)204-206
Number of pages3
JournalHemoglobin
Volume43
Issue number3
DOIs
StatePublished - May 4 2019

Keywords

  • HBB
  • Hemoglobinopathy
  • oxygen affinity
  • β-Globin variant

ASJC Scopus subject areas

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

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