A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C)

Hemoglobin. 2012;36(5):508-10. doi: 10.3109/03630269.2012.700898.

Abstract

We report a new mutation on the α2-globin gene causing α(+)-thalassemia (α(+)-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • Frameshift Mutation*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • alpha-Globins / chemistry
  • alpha-Globins / genetics*
  • alpha-Thalassemia / genetics*

Substances

  • Codon
  • alpha-Globins