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

Abstract excerpt

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...

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