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Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 2
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Brief Communications

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

Emil B. Ahmad-Nielsena Department of Hematology, Danish Center for Hemoglobinopathies, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
,
Pal B. Szecsib Department of Clinical Biochemistry, Holbaek Hospital, Holbaek, DenmarkORCID Iconhttps://orcid.org/0000-0003-3446-0411
ORCID Icon,
Palle S. Bratholmb Department of Clinical Biochemistry, Holbaek Hospital, Holbaek, Denmark
,
Jesper Petersena Department of Hematology, Danish Center for Hemoglobinopathies, Copenhagen University Hospital Rigshospitalet, Copenhagen, DenmarkORCID Iconhttps://orcid.org/0000-0001-6116-5114
ORCID Icon &
Andreas Glenthøja Department of Hematology, Danish Center for Hemoglobinopathies, Copenhagen University Hospital Rigshospitalet, Copenhagen, DenmarkCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-2082-0738
ORCID Icon
Pages 124-128 | Received 03 Aug 2021, Accepted 13 Nov 2021, Published online: 03 Aug 2022
 
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Abstract

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.

Disclosure statement

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

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