Hb Hebei [α20 (B1) His→Leu; HBA2:C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin.

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-05 DOI:10.1080/03630269.2024.2311356
Wei-Bin Li, Li-Hong Zheng, You-Qiong Li
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引用次数: 0

Abstract

We report a novel hemoglobin (Hb) variant found in a 34-year-old Chinese male during a routine measurement of glycated hemoglobin. The variant resulted in a P3 peak of 27.5% of the total Hb on high performance liquid chromatography (HPLC) with a glycated hemoglobin mode. However, no abnormal Hb peaks were observed in capillary electrophoresis (CE) with 3.1% Hb A2 and 96.9% Hb A. The amino acid substitution was determined by Sanger sequencing as α20 (B1) His→Leu; the corresponding DNA mutation was identified as CAC > CTC at the first position of codon 20 of the α-chain. This is the first description of the mutation, and we have named it Hb Hebei for the region of origin of the proband.

河北血红蛋白 [α20 (B1) His→Leu; HBA2:C.62A > T]:测量糖化血红蛋白时发现的新型血红蛋白变异体。
我们报告了一名 34 岁中国男性在常规糖化血红蛋白测量中发现的新型血红蛋白(Hb)变异体。在高效液相色谱(HPLC)的糖化血红蛋白模式下,该变异体的 P3 峰占总血红蛋白的 27.5%。通过桑格测序,确定氨基酸替换为 α20 (B1) His→Leu;相应的 DNA 变异被确定为 α 链密码子 20 的第一个位置上的 CAC > CTC。这是对该突变的首次描述,我们将其命名为河北血红蛋白,以代表该患者的原籍地区。
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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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