Su Heng-Xue, Li Feng, Liang Liang, Zou Xiang-Bin, Li You-Qiong
Department of Clinical Laboratory, Hospital of Rong County, Yulin, Guangxi Autonomous Region, People's Republic of China.
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Autonomous Region, People's Republic of China.
Hemoglobin. 2022 May;46(3):176-179. doi: 10.1080/03630269.2022.2043356. Epub 2022 May 10.
We report a rare hemoglobin (Hb) variant on the β-globin gene, which was detected in a female from Yulin City, Guangxi Autonomous Region, People's Republic of China (PRC), during routine thalassemia screening. The Hb variant remained unnoticed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC), while an additional peak was observed by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry (MS). DNA sequencing revealed the GC>GC substitution at codon 13 on the β-globin gene, causing a substitution of alanine to valine. The mutation is only described in the ITHANET database but no Hb variant name and other information, so we named it Hb Yulin after the place of origin of the proband in this study. Hb Yulin is clinically silent and easily leads to misdiagnosis during hemoglobinopathies screening based on the common methods of HPLC and CE.
我们报告了一种罕见的β-珠蛋白基因突变体血红蛋白（Hb），该突变体是在中国广西壮族自治区玉林市的一名女性进行常规地中海贫血筛查时检测到的。使用毛细管电泳（CE）和高效液相色谱（HPLC）未发现该Hb变体，而基质辅助激光解吸电离飞行时间（MALDI-TOF）质谱（MS）观察到一个额外的峰。DNA测序显示β-珠蛋白基因第13密码子处发生GC>GC替换，导致丙氨酸被缬氨酸取代。该突变仅在ITHANET数据库中有描述，但没有Hb变体名称和其他信息，因此我们根据本研究中先证者的出生地将其命名为Hb玉林。Hb玉林在临床上无症状，基于HPLC和CE等常用方法进行血红蛋白病筛查时很容易导致误诊。
