Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand.
Specialist Haematology, Waikato Hospital, Hamilton, New Zealand.
Hemoglobin. 2021 Jan;45(1):41-45. doi: 10.1080/03630269.2021.1873801. Epub 2021 Jan 21.
We report the identification of a novel, high oxygen affinity hemoglobin (Hb) variant [α127(H10)Lys→Gln; : c.382A>C]. The variant was detected in an adolescent male (proband) of Syrian descent by cation exchange high performance liquid chromatography (HPLC), during Hb A analysis. A complete blood count (CBC) showed elevated red blood cells (RBCs) (6.08 × 10/L), Hb (16.1 g/dL) and packed cell volume (PCV) (0.48 L/L). Capillary electrophoresis (CE) revealed the variant was more negatively charged and represented 18.2% of total Hb. Isopropanol stability was normal. Cyanosis in the subject prompted investigation of oxygen affinity, with a reduced p50 of 20.8 mm Hg and a left shifted oxygen dissociation curve demonstrating increased oxygen affinity. We propose the novel variant be named Hb Waikato, which reflects the Hospital Laboratory where the variant was discovered and region where the proband was born and herein describe characterization.
我们报告了一种新型的高氧亲和力血红蛋白（Hb）变体[α127（H10）Lys→Gln；：c.382A>C]的鉴定。该变体是通过阳离子交换高效液相色谱（HPLC）在一名叙利亚血统的青少年男性（先证者）的 Hb A 分析中检测到的。全血细胞计数（CBC）显示红细胞（RBC）升高（6.08×10/L），Hb（16.1g/dL）和红细胞压积（PCV）升高（0.48/L/L）。毛细管电泳（CE）显示该变体带负电荷更多，占总 Hb 的 18.2%。异丙醇稳定性正常。受检者发绀促使对氧亲和力进行调查，p50 降低至 20.8mmHg，氧离曲线左移，表明氧亲和力增加。我们建议将新型变体命名为 Hb Waikato，它反映了发现该变体的医院实验室和先证者出生的地区，并在此描述了其特征。
