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

ABSTRACT

A novel ß(0)-thalassemia (ß-thal) frameshift mutation, HBB c.209delG; p.Gly70Valfs*20, is described in a 21-year-old African American female with ß-thalassemia major (ß-TM) due to compound heterozygosity for the ß(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 ß-globin chain synthesis, evidenced by the proband having no Hb A present.