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Updated: Sep 2, 2025

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Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c

Emil B Ahmad-Nielsen1, Pal B Szecsi2, Palle S Bratholm2

  • 1Department of Hematology, Danish Center for Hemoglobinopathies, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Hemoglobin
|August 3, 2022
PubMed

A previously unknown hemoglobin (Hb) variant was detected during measurement of glycosylated Hb (Hb A1c) after the introduction of a new high performance liquid chromatography (HPLC) apparatus. Subsequent DNA sequencing revealed a heterozygous single nucleotide substitution at codon 79 (C>A) on the β-globin gene changing an amino acid [β79(EF3)Asp→Glu; HBB: c.240C>A]. The new Hb variant was named Hb Kalundborg after the place of origin of the proband. Heterozygosity for this mutation appears to have no clinical significance in itself except for a possibly slightly lower oxygen affinity. However, it interferes with Hb A1c measurement by HPLC, causing a falsely high Hb A1c concentration when using the G11 apparatus with clinical implications possibly to follow.

Keywords:
Hb A1chemoglobin (Hb) varianthigh performance liquid chromatography (HPLC)low-affinity Hbβ-Globin gene

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