Department of Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand.
Haematology Laboratory, Waikato Hospital, Hamilton, New Zealand.
Hemoglobin. 2022 Mar;46(2):81-86. doi: 10.1080/03630269.2022.2083971. Epub 2022 Aug 11.
We report the identification of a novel hemoglobin (Hb) variant [α57(E6)Gly→Cys; : c.172G>T], to be referred to as Hb Kirikiriroa. The variant was detected in five subjects from two families, with familial relationship established between the families following diagnosis. A persistently elevated Hb A over a 1-year period prompted hemoglobinopathy screening in an adolescent male of New Zealand (NZ) European descent (case 1). Capillary electrophoresis (CE) revealed the variant was negatively charged and susceptible to oxidation, with multiple abnormal peaks detected (0.4-5.1% total Hb). Hb A analysis by cation exchange high performance liquid chromatography (HPLC) was the first indication of the variant in a pregnant female of NZ European descent (case 2). Cases 1 and 2 had normal complete blood counts. Isopropanol stability testing provided evidence the variant was unstable. We herein describe the characterization of Hb Kirikiriroa and clinical significance of the variant for interference with Hb A analysis by CE and cation exchange HPLC.
我们报告了一种新型血红蛋白 (Hb) 变异体 [α57(E6)Gly→Cys; : c.172G>T] 的鉴定，将其命名为 Hb Kirikiriroa。该变异体在来自两个家庭的五名受试者中被检测到，在诊断后建立了家庭之间的家族关系。一名新西兰 (NZ) 欧洲血统的青少年男性 (病例 1) 的 Hb A 持续升高超过 1 年，促使进行了血红蛋白病筛查。毛细管电泳 (CE) 显示该变异体带负电荷且易氧化，检测到多个异常峰 (0.4-5.1%总 Hb)。在一名 NZ 欧洲血统的孕妇 (病例 2) 中，阳离子交换高效液相色谱 (HPLC) 的 Hb A 分析首次提示存在该变异体。病例 1 和 2 的全血细胞计数均正常。异丙醇稳定性测试为该变异体不稳定提供了证据。我们在此描述了 Hb Kirikiriroa 的特征及其对 CE 和阳离子交换 HPLC 中 Hb A 分析的干扰的临床意义。
