title: 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.
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.
authors.affiliation: Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Mayo Clinic , Rochester, Minnesota , USA.
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Kluge
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Kenneth C
authors.initials: KC
authors.lastname: Swanson
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Oliveira
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: frameshift mutation; truncating mutation; β-Thalassemia major (β-TM); β0-thalassemia (β0-thal)