Zhao Yu-Lan, Lin Qing-Fang, He Xiao-Wei, Li You-Qiong, Liang Liang
Department of Medical Genetics, Women and Children, Care Hospital of Hezhou, Hezhou, Guangxi, People's Republic of China.
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Hemoglobin. 2021 Mar;45(2):133-135. doi: 10.1080/03630269.2021.1908347. Epub 2021 Apr 11.
We report a novel mutation on the β-globin gene, Hb Hezhou [β64(E8)Gly→Ser; : c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α-thalassemia (α-thal) -α (leftward) deletion, but hematological analyses showed no clinical consequences. Patient 2 was heterozygous for Hb Hezhou. Hemoglobin (Hb) analysis was performed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The Hb variant remained undetected using HPLC, while an additional peak was detected by CE. The finding of Hb Hezhou indicates that the possibilities of rare Hb variants should be alerted in the thalassemia screening program and precisely diagnosed depending on the Hb separation technique used.
我们报告了在两名不相关的中国个体中检测到的β-珠蛋白基因上的一种新型突变，即Hb贺州[β64(E8)甘氨酸→丝氨酸；：c.193G>A]。患者1还携带α-地中海贫血（α-thal）-α（向左）缺失，但血液学分析显示无临床后果。患者2为Hb贺州杂合子。使用毛细管电泳（CE）和高效液相色谱（HPLC）进行血红蛋白（Hb）分析。使用HPLC未检测到Hb变异体，而通过CE检测到一个额外的峰。Hb贺州的发现表明，在地中海贫血筛查项目中应警惕罕见Hb变异体的可能性，并根据所使用的Hb分离技术进行精确诊断。
