A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon

Hemoglobin. 2015;39(1):46-8. doi: 10.3109/03630269.2014.982760. Epub 2014 Dec 5.

Abstract

We report a new β-globin chain variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed.

Keywords: double tandem base substitution; gene conversion; variants; β-Globin.

MeSH terms

  • Base Sequence
  • Codon
  • Female
  • Gene Conversion
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • beta-Globins / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • beta-Globins