Hb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A_1c Using Ion Exchange High Performance Liquid Chromatography

Runa M. GrimholtDepartment of Medical Biochemistry, Oslo University Hospital, Ullevaal, Oslo, Norway; ;Institute of Clinical Medicine, University of Oslo, Oslo, Norway; ;Department of Life Sciences and Health, OsloMet (Oslo Metropolitan) University, Oslo, Norway; Correspondence[email protected]

Bente FjeldDepartment of Medical Biochemistry, Oslo University Hospital, Ullevaal, Oslo, Norway; ;Institute of Clinical Medicine, University of Oslo, Oslo, Norway;

Hilde SelsåsDepartment of Endocrinology, Aalesund Hospital, Aalesund, Norway;

Lutz SchwettmannDepartment of Medical Biochemistry, Aalesund Hospital, Aalesund, Norway; ;Department of Biological Sciences, Norwegian University of Science and Technology, Aalesund, Norway

Olav KlingenbergDepartment of Medical Biochemistry, Oslo University Hospital, Ullevaal, Oslo, Norway; ;Institute of Clinical Medicine, University of Oslo, Oslo, Norway;

Abstract

A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A_1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.400_406delAGCACCG) (NM_000517.4) causing a frameshift and a premature termination codon (PTC) two positions downstream. Apparently, the transcript bypassed nonsense-mediated decay (NMD), and a truncated protein was translated. The unstable Hb variant presumably underwent rapid denaturation, as heterozygosity of Hb Aalesund was associated with mild hemolytic anemia. In addition, the Hb variant interfered with Hb A_1c measurement by cation exchange high performance liquid chromatography (HPLC), causing a falsely high Hb A_1c result when using the Bio-Rad D10™ Hemoglobin Analyzer fast Hb A_1c Program.

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

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Hb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A_1c Using Ion Exchange High Performance Liquid Chromatography

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Hb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A1c Using Ion Exchange High Performance Liquid Chromatography

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Hb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A_1c Using Ion Exchange High Performance Liquid Chromatography