Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: A Novel Silent Substitution Interfering in Hb A_1c Determination

Abstract

We report a novel hemoglobin (Hb) mutation [Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G] that was identified in an individual with an inappropriately low Hb A_1c value of 2.8% when using an ion exchange method. Although occurring at a well conserved site, the conservative substitution was not associated with any adverse clinical features.

• Hemoglobin mutation
• Mass spectrometry (MS)
• α Globin locus
• Hb A_1c

ACKNOWLEDGMENTS

We wish to thank Anthea Povall and Charles Hawes (Canterbury Health Laboratories, Christchurch, New Zealand) for technical assistance.

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