Abstract
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.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.