Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement. (4th March 2022)

• Record Type: Journal Article
• Authors: Ahmad-Nielsen, Emil B.; Szecsi, Pal B.; Bratholm, Palle S.; Petersen, Jesper; Glenthøj, Andreas
• Is Part Of: Hemoglobin. Volume 46:Number 2(2022)
• Page Start: 124
• Page End: 128
• Publication Date: 2022-03-04
• Subjects: β-Globin gene -- Hb A1c -- hemoglobin (Hb) variant -- high performance liquid chromatography (HPLC) -- low-affinity Hb; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2079520
• Languages: English
• ISSNs: 0363-0269

Abstract

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.