Hb Yongning [β1 (NA1) Val→Leu; HBB :C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays
Abstract
We report a novel β-globin chain variant identified in a proband who is also a carrier of β-thalassemia. Glycated hemoglobin analysis revealed an elevated Hb A1c level of 20.34% using high-performance liquid chromatography (HPLC), while the fasting blood glucose level was 5.49 mmol/L. Subsequent testing using an alternative HPLC system showed an Hb A1c value of 2.8%, and the immunoturbidimetric assay failed to yield a detectable result. Sanger sequencing confirmed the presence of two heterozygous point mutations in the β-globin gene: CD1 (GTG > CTG) (HBB:c.4G > C) and CD17 (AAG > TAG) (HBB:c.52A > T). Hemoglobin analysis showed the variant electrophoresing at the HbA position. The HBB:c.4G > C mutation represents a previously unreported variant, which has been designated Hb Yongning based on the proband’s geographical origin.
Fields of Study & Subjects
Hemoglobinopathies and Related Disorders
Diabetes
Cardiovascular Risks
and Lipoproteins
Genomics and Rare Diseases
Publication details
- Journal / source
- Hemoglobin
- Publisher
- Informa UK Limited
- Volume
- 50
- Issue
- 1
- Pages
- 97–100
- Publication date
- 2 January 2026
- Language
- EN