Normal Hb A2 β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) in Cis with the Hb A2' δ-Globin Gene Missense Mutation (HBD: c.49G>C). (April 2013)

• Record Type: Journal Article
• Authors: Waye, John S.; Eng, Barry; Hellens, Laurie; Hohenadel, Betty-Ann; Nakamura, Lisa M.; Walker, Lynda
• Is Part Of: Hemoglobin. Volume 37:Number 2(2013)
• Page Start: 201
• Page End: 204
• Publication Date: 2013-04
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2012.763171
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report the case of a father and daughter who are heterozygous for a duplication of 65 bp within exon 2 of the β-globin gene, resulting in an altered and truncated β-globin chain that is predicted to be non functional. The β-globin gene mutation is in <italic>cis</italic> with the common Hb A_{2 ′} missense mutation of the δ-globin gene (<italic>HBD</italic>: c.49G&gt;C), resulting in β-thalassemia (β-thal) trait with normal levels of Hb A₂. This is the second report of this β⁰-thal mutation, and both families were associated with the Hb A_{2 ′} variant and normal levels of Hb A₂. Laboratories should be aware of the rare occurrence of β-thal trait with normal levels of Hb A₂.</p> </abstract>