Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family

Abstract

We report a novel mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese proband, who was also an α-thalassemia (α-thal) Southeast Asian (αα/– –^SEA) deletion carrier and displayed characteristic hematological features of β-thalassemia (β-thal) traits. The proband and carriers in her family presented hematological abnormalities. This novel mutation results in a frameshift and consequently creates a premature stop codon at codon 90 of the HBB gene. Thus, couples at-risk for β-thal should also be tested for this mutation. Double heterozygotes for α- and β-thal are easily misdiagnosed as pure β-thal carriers, which should be noted in the process of risk assessment and counseling.

Keywords:

• β-Globin gene
• β-thalassemia (β-thal)
• novel mutation

Disclosure statement

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

Additional information

Funding

This study was supported by the Dongguan Bureau of Science and Technology for the City Key Program of Science and Technology [Project Number: 2013108101018] and the Science and Technology Planning Project of Guangdong Province [Project Number: 2014A020213001].