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Updated: Jan 7, 2026
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Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common
Li Liang1, Yongguang Du2, Lihong Zheng3
1Department of Clinical Laboratory, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
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.
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.
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The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...