Non-thalassemic phenotype associated with the -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A).

Hemoglobin 2014 ;38(6):447-8

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .

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.

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Source
http://www.tandfonline.com/doi/full/10.3109/03630269.2014.97
Publisher Site
http://dx.doi.org/10.3109/03630269.2014.976417DOI Listing
July 2015

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