Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A) Academic Article uri icon

  •  
  • Overview
  •  
  • Research
  •  
  • Identity
  •  
  • Additional Document Info
  •  
  • View All
  •  

abstract

  • The -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A) was first reported in an adult male patient with mild thalassemic indices, suggesting that this may be a mild β(+)-thalassemia (β(+)-thal) allele. In this report, we present data from several patients who are simple heterozygotes for the -83 mutation, or compound heterozygotes for -83 and Hb S (HBB: c.20A > T) or β-thal. These cases illustrate that the -83 sequence variant is not associated with a thalassemic phenotype. This has important implications for carrier screening and genetic counseling, particularly since the -83 mutation is relatively common in African and Hispanic populations.

authors

  • Waye, John
  • Eng, Barry
  • Hanna, Meredith
  • Hohenadel, Betty-Ann
  • Nakamura, Lisa N
  • Walker, Lynda

publication date

  • December 2014