A New α Chain Variant, Hb Heilongjiang (HBA2: c.49A>C), Found During Hb A_1c Measurement

Abstract

We here report a new hemoglobin (Hb) variant found in a Chinese woman. The presence of the Hb variant can be easily recognized by HbA_1c procedures based on ion exchange high performance liquid chromatography (HPLC) or capillary electrophoresis (CE) techniques. DNA sequencing revealed a new point mutation (HBA2: c.49A>C) at codon 16, resulting in an amino acid substitution from lysine to glutamine. Moreover, the Hb variant affected Hb A_1c determination by VARIANT II Turbo 2.0 and D100. We named the new Hb variant Hb Heilongjiang for the birthplace of the proband.

Keywords:

• Hb A1c
• HBA2: c.49A>C
• Hb Heilongjiang
• Hemoglobin (Hb) variant

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Research Foundation of Peking University Shenzhen Hospital [JCYJ2018005].