Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, People's Republic of China.
Department of Laboratory Medicine, Dongguan Shipai Hospital, Dongguan, Guangdong Province, People's Republic of China.
Hemoglobin. 2023 Sep;47(5):202-204. doi: 10.1080/03630269.2023.2277445. Epub 2023 Dec 7.
In this report we decribed a new α-chain variant found during the measurement of hemoglobin A (Hb A) using matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS). MALDI-TOF MS analysis detected an α-chain variant with a mass of 15,155 Da. However, this Hb variant was not detected during Hb A measurement by cation-exchange high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) methods. Sanger sequencing validated the presence of a heterozygous missense mutation [: c.239C > T, CD79(GCG > GTG)(Ala > Val)]. The observed 28 Da mass difference exactly matches the theoretical mass difference (28 Da) resulting from the substitution of alanine (89.079) with valine (117.133). As this represents the initial documentation of the mutation, we named it Hb Tangshan after the proband's residence.
在使用基质辅助激光解吸电离飞行时间（MALDI-TOF）质谱（MS）测量血红蛋白 A（Hb A）时，我们在报告中描述了一种新的 α 链变体。MALDI-TOF MS 分析检测到一种 α 链变体，其质量为 15155 Da。然而，这种 Hb 变体在阳离子交换高效液相色谱（HPLC）和毛细管电泳（CE）方法测量 Hb A 时并未被检测到。Sanger 测序证实存在杂合错义突变[: c.239C>T，CD79(GCG>TGG)(Ala>Val)]。观察到的 28 Da 质量差异与理论质量差异（28 Da）完全匹配，这是由丙氨酸（89.079）替换为缬氨酸（117.133）引起的。由于这是该突变的首次记录，我们根据先证者的居住地将其命名为 Hb Tangshan。
