beta-Thalassemia Major Resulting from Compound Heterozygosity for HBB: c.92+2T > C [formerly known as IVS-I-2 ( T > C)] and a Novel beta(0)-Thalassemia Frameshift Mutation: HBB: c.209delG; p.Gly70Valfs*20

摘要

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