A New Case of Hb Headington (HBB: c.217A>C) Due to a New DNA Transversion, Found in a Patient with Type 2 Diabetes Mellitus

Abstract

We here report a novel case of Hb Headington [β72(E16)Ser→Arg, HBB: c.217A>C, p.Ser73Arg], in a 68-year-old woman with type 2 diabetes mellitus (T2DM). Glycosylated hemoglobin (Hb) was measured by capillary electrophoresis (CE). The spectrum showed abnormal peaks between the A₀ and A₂ peaks. DNA sequencing demonstrated a mutation on the HBB gene, which predicted a substitution of serine to arginine at position 73 in the β-globin chain. Moreover, this amino acid substitution occurs at the same position as Hb Headington [β72(E16)Ser→Arg, HBB: c.219T>A, p.Ser73Arg], which showed increased oxygen affinity.

Keywords:

• Capillary electrophoresis (CE)
• Hb A_1c
• hemoglobin (Hb) variants
• oxygen affinity

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 the Scientific Research Foundation for the Talents, Chu Hsien-I Memorial Hospital of Tianjin Medical University, Tianjin, People’s Republic of China [2018RC04].