Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: A Novel Silent Substitution Interfering in Hb A1c Determination. (December 2013)

• Record Type: Journal Article
• Authors: Brennan, Stephen O.; Chan, Tim
• Is Part Of: Hemoglobin. Volume 37:Number 6(2013)
• Page Start: 589
• Page End: 592
• Publication Date: 2013-12
• Subjects: Hemoglobin mutation -- Mass spectrometry (MS) -- α Globin locus -- Hb A1c; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.809734
• Languages: English
• ISSNs: 0363-0269

Abstract

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 A1c 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.