β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20

Hemoglobin. 2014;38(4):292-4. doi: 10.3109/03630269.2014.931286. Epub 2014 Jul 2.

Abstract

A novel β(0)-thalassemia (β-thal) frameshift mutation, HBB: c.209delG; p.Gly70Valfs*20, is described in a 21-year-old African American female with β-thalassemia major (β-TM) due to compound heterozygosity for the β(0)-thal mutation HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and HBB: c.209delG. The combination of these mutations demonstrates a complete lack of β-globin chain synthesis, evidenced by the proband having no Hb A present.

Keywords: frameshift mutation; truncating mutation; β-Thalassemia major (β-TM); β0-thalassemia (β0-thal).

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation*
  • Heterozygote*
  • Humans
  • Young Adult
  • beta-Globins / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins