Identification of a Novel Mutation in the 3′ Untranslated Region of the β-Globin Gene (HBB:c.*132C>G) in a Chinese Family.

We describe a new β-globin mutation causing silent β-thalassemia (β-thal). The proband was a 5-year-old boy who presented with the phenotype of thalassemia intermedia. Molecular diagnoses revealed a genomic alteration at position 1606 of the HBB gene (HBB:c.*132C>G) in combination with a common β0-thal mutation (HBB:c.126_129delCTTT). The 3′-untranslated region (UTR) mutation was inherited from his father who showed a normal mean corpuscular volume (MCV) and Hb A2 level. The discovery of rare mutations provides important information related to both genetic counseling for families involved. [ABSTRACT FROM AUTHOR]