Xu Anping, Chen Weidong, Xie Weijie, Zheng Huiqi, Zhou Yu, Ji Ling
Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China.
Hemoglobin. 2021 Jul;45(4):250-253. doi: 10.1080/03630269.2021.1956946. Epub 2021 Jul 26.
Here we report a new α chain variant accidentally discovered during Hb A measurement by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS) that revealed the presence of a variant α chain with a mass of 15155 Da. However, this hemoglobin (Hb) variant cannot be detected by the first-line methods such as cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing confirmed the presence of a heterozygous missense mutation [: c.46G>A, codon 15 (GT>GT), (Gly→Ser)]. The theoretical mass difference (30 Da) due to the substitution of amino acid glycine to serine matched the actual measured mass difference (29 Da). As this is the first report of the mutation, we named it Hb Nanchang after the place of residence of the proband.
在此，我们报告了一种新的α链变体，它是在通过基质辅助激光解吸电离飞行时间（MALDI-TOF）质谱（MS）测量Hb A时意外发现的，该变体显示存在一条质量为15155 Da的α链变体。然而，这种血红蛋白（Hb）变体无法通过阳离子交换高效液相色谱（HPLC）和毛细管电泳（CE）等一线方法检测到。桑格测序证实存在杂合错义突变[: c.46G>A，密码子15（GT>GT），（甘氨酸→丝氨酸）]。由于氨基酸甘氨酸被丝氨酸取代导致的理论质量差异（30 Da）与实际测量的质量差异（29 Da）相符。由于这是该突变的首次报告，我们根据先证者的居住地将其命名为Hb南昌。
