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

We describe a new -globin mutation causing silent -thalassemia (-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 gene (:c.*132C>G) in combination with a common -thal mutation (:c.126_129delCTTT). The 3'-untranslated region (UTR) mutation was inherited from his father who showed a normal mean corpuscular volume (MCV) and Hb A level. The discovery of rare mutations provides important information related to both genetic counseling for families involved.