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

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.

• β-Thalassemia major (β-TM)
• β⁰-thalassemia (β⁰-thal)
• frameshift mutation
• truncating mutation