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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 6
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Original Articles

δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience

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Pages 438-441 | Received 06 Jul 2020, Accepted 17 Sep 2020, Published online: 15 Oct 2020
 

Abstract

High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, however, various disorders including alteration of δ chains may result in decreased production of Hb A2, thus hindering the diagnosis of β-thalassemias. The reported data reflect the experience of a large reference laboratory in the United States. In the current study, we have attempted to assess the prevalence and also tried to characterize the identified mutations in the HBD gene resulting in decreased Hb A2 levels. In our cohort, 1.6% of 6486 patients were found to have Hb A2 values of <1.9%. Bidirectional sequencing of the HBD gene demonstrated mutations in 20 cases (19.0% of the individuals with decreased Hb A2). In addition to the previously reported variants, one novel mutation (Hb A2-Utah or HBD: c.46T>C).

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This research was performed at Associated Regional University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA.

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