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

We here report a novel case of Hb Headington [beta 72(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 A(0) and A(2) peaks. DNA sequencing demonstrated a mutation on the HBB gene, which predicted a substitution of serine to arginine at position 73 in the beta-globin chain. Moreover, this amino acid substitution occurs at the same position as Hb Headington [beta 72(E16)Ser -> Arg, HBB: c.219T>A, p.Ser73Arg], which showed increased oxygen affinity.