Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A). (December 2014)

• Record Type: Journal Article
• Authors: Waye, John S.; Eng, Barry; Hanna, Meredith; Hohenadel, Betty-Ann; Nakamura, Lisa N.; Walker, Lynda
• Is Part Of: Hemoglobin. Volume 38:Number 6(2014)
• Page Start: 447
• Page End: 448
• Publication Date: 2014-12
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.976417
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>The -83 (G &gt; A) mutation of the β-globin gene promoter (<italic>HBB</italic>: c.-133G &gt; 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 (<italic>HBB</italic>: c.20A &gt; 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.</p> </abstract>