Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement
Research output: Contribution to journal › Letter › Research › peer-review
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 |
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Journal | Hemoglobin |
Volume | 46 |
Issue number | 2 |
Pages (from-to) | 124-128 |
Number of pages | 5 |
ISSN | 0363-0269 |
DOIs | |
Publication status | Published - 2022 |
Bibliographical note
Publisher Copyright:
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- Hb A, hemoglobin (Hb) variant, high performance liquid chromatography (HPLC), low-affinity Hb, β-Globin gene
Research areas
ID: 329419898