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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&gt;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 A 2  level. The discovery of rare mutations provides important information related to both genetic counseling for families involved.

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