Article
Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.
Hemoglobin - 1 Mar 2022
Ahmad-Nielsen Emil B, Szecsi Pal B, Bratholm Palle S, Petersen Jesper, Glenthøj Andreas
Abstract excerpt
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...
Topics
- Amino Acids
- Chromatography, High Pressure Liquid
- Codon
- Glycated Hemoglobin
- Hemoglobinopathies
- Hemoglobins, Abnormal
- Humans
- Mutation
- Nucleotides
- Oxygen
- beta-Globins