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

Emil B Ahmad-Nielsen; Pal B Szecsi; Palle S Bratholm; Jesper Petersen; Andreas Glenthøj

doi:10.1080/03630269.2022.2079520

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

Emil B Ahmad-Nielsen, Pal B Szecsi, Palle S Bratholm, Jesper Petersen, Andreas Glenthøj^*

^*Corresponding author for this work

Department of Haematology

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.

Original language	English
Journal	Hemoglobin
Volume	46
Issue number	2
Pages (from-to)	124-128
Number of pages	5
ISSN	0363-0269
DOIs	https://doi.org/10.1080/03630269.2022.2079520
Publication status	Published - Mar 2022

Keywords

beta-Globin gene
Hb A(1c)
hemoglobin (Hb) variant
high performance liquid chromatography (HPLC)
low-affinity Hb

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10.1080/03630269.2022.2079520

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

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.",

keywords = "beta-Globin gene, Hb A(1c), hemoglobin (Hb) variant, high performance liquid chromatography (HPLC), low-affinity Hb",

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year = "2022",

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doi = "10.1080/03630269.2022.2079520",

language = "English",

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AU - Ahmad-Nielsen, Emil B

AU - Szecsi, Pal B

AU - Bratholm, Palle S

AU - Petersen, Jesper

AU - Glenthøj, Andreas

PY - 2022/3

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N2 - 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.

AB - 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.

KW - beta-Globin gene

KW - Hb A(1c)

KW - hemoglobin (Hb) variant

KW - high performance liquid chromatography (HPLC)

KW - low-affinity Hb

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

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Keywords

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