β-thalassemia major resulting from compound heterozygosity for HBB: C.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β0-thalassemia frameshift mutation: HBB: c.209delG; P.Gly70Valfs*20

Michelle L. Kluge, James D. Hoyer, Kenneth C. Swanson, Jennifer L. Oliveira

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

A novel β0-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 β0-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.

Original languageEnglish (US)
Pages (from-to)292-294
Number of pages3
JournalHemoglobin
Volume38
Issue number4
DOIs
StatePublished - 2014

Keywords

  • Frameshift mutation
  • Truncating mutation
  • β-Thalassemia major (β-TM)

ASJC Scopus subject areas

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

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