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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Standard

Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement. / Ahmad-Nielsen, Emil B.; Szecsi, Pal B.; Bratholm, Palle S.; Petersen, Jesper; Glenthøj, Andreas.

I: Hemoglobin, Bind 46, Nr. 2, 2022, s. 124-128.

Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt

Harvard

Ahmad-Nielsen, EB, Szecsi, PB, Bratholm, PS, Petersen, J & Glenthøj, A 2022, 'Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement', Hemoglobin, bind 46, nr. 2, s. 124-128. https://doi.org/10.1080/03630269.2022.2079520

APA

Ahmad-Nielsen, E. B., Szecsi, P. B., Bratholm, P. S., Petersen, J., & Glenthøj, A. (2022). Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement. Hemoglobin, 46(2), 124-128. https://doi.org/10.1080/03630269.2022.2079520

Vancouver

Ahmad-Nielsen EB, Szecsi PB, Bratholm PS, Petersen J, Glenthøj A. Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement. Hemoglobin. 2022;46(2):124-128. https://doi.org/10.1080/03630269.2022.2079520

Author

Ahmad-Nielsen, Emil B. ; Szecsi, Pal B. ; Bratholm, Palle S. ; Petersen, Jesper ; Glenthøj, Andreas. / Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement. I: Hemoglobin. 2022 ; Bind 46, Nr. 2. s. 124-128.

Bibtex

@article{b09f6a7895804533a0119eb0bf054c3f,
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 = "Hb A, hemoglobin (Hb) variant, high performance liquid chromatography (HPLC), low-affinity Hb, β-Globin gene",
author = "Ahmad-Nielsen, {Emil B.} and Szecsi, {Pal B.} and Bratholm, {Palle S.} and Jesper Petersen and Andreas Glenth{\o}j",
note = "Publisher Copyright: {\textcopyright} 2022 Informa UK Limited, trading as Taylor & Francis Group.",
year = "2022",
doi = "10.1080/03630269.2022.2079520",
language = "English",
volume = "46",
pages = "124--128",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Taylor & Francis",
number = "2",

}

RIS

TY - JOUR

T1 - Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement

AU - Ahmad-Nielsen, Emil B.

AU - Szecsi, Pal B.

AU - Bratholm, Palle S.

AU - Petersen, Jesper

AU - Glenthøj, Andreas

N1 - Publisher Copyright: © 2022 Informa UK Limited, trading as Taylor & Francis Group.

PY - 2022

Y1 - 2022

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 - Hb A

KW - hemoglobin (Hb) variant

KW - high performance liquid chromatography (HPLC)

KW - low-affinity Hb

KW - β-Globin gene

U2 - 10.1080/03630269.2022.2079520

DO - 10.1080/03630269.2022.2079520

M3 - Letter

C2 - 35920343

AN - SCOPUS:85135257952

VL - 46

SP - 124

EP - 128

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 2

ER -

ID: 329419898