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.
摘要：
我们在这里报道一例HbHeadington[β72（E16）Ser→Arg，HBB：c.217A>C，p.Ser73Arg],在一名68岁的2型糖尿病（T2DM）女性中。通过毛细管电泳(CE)测量糖化血红蛋白(Hb)。光谱显示A0和A2峰之间的异常峰。DNA测序显示HBB基因突变,其预测在β-珠蛋白链中的位置73处丝氨酸被替换为精氨酸。此外，该氨基酸取代发生在与HbHeadington[β72（E16）Ser→Arg，HBB：c.219T>A，p.Ser73Arg],显示增加的氧亲和力。
