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- W2014379101 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." @default.
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- W2014379101 date "2014-11-18" @default.
- W2014379101 modified "2023-09-26" @default.
- W2014379101 title "Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A)" @default.
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- W2014379101 doi "https://doi.org/10.3109/03630269.2014.976417" @default.
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