一种新的错义突变[cd112 (G14) Cys > Ser (TGT > TCT)]引起的血红蛋白变异HBB: C. 338g > C]，由MALDI-TOF质谱法发现。

IF 1 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2025-07-01 Epub Date: 2025-06-03 DOI:10.1080/03630269.2025.2514134

Weijie Xie, Cheng Lin, Yueying Huang, Ziling Yang, Houlong Luo, Rong He, Xiaohui Huang, Anping Xu, Ling Ji

{"title":"一种新的错义突变[cd112 (G14) Cys > Ser (TGT > TCT)]引起的血红蛋白变异HBB: C. 338g > C]，由MALDI-TOF质谱法发现。","authors":"Weijie Xie, Cheng Lin, Yueying Huang, Ziling Yang, Houlong Luo, Rong He, Xiaohui Huang, Anping Xu, Ling Ji","doi":"10.1080/03630269.2025.2514134","DOIUrl":null,"url":null,"abstract":"Here we report a hemoglobin (Hb) variant, initially detected by matrix-assisted laser desorption ionisation-time of flight mass spectrometry (MALDI-TOF MS). A 29-year-old woman who presented to our hospital for a medical examination showed a remarkable discrepancy between her fasting plasma glucose level (5.07 mmol/L) and her HbA1c value (3.61%), as determined by capillary electrophoresis (CE). Hemoglobin analysis by MALDI TOF MS revealed an abnormal globin with a mass of 15853 Da. Sanger sequencing identified a novel missense mutation in exon 112 of the β-globin chain [CD 112(G14) Cys > Ser (TGT > TCT); HBB:c.338G > C]. In reference to the birthplace of the proband, this variant was named Hb Jiangxi.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"294-297"},"PeriodicalIF":1.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB: C.338G > C], Was Discovered by MALDI-TOF MS.\",\"authors\":\"Weijie Xie, Cheng Lin, Yueying Huang, Ziling Yang, Houlong Luo, Rong He, Xiaohui Huang, Anping Xu, Ling Ji\",\"doi\":\"10.1080/03630269.2025.2514134\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Here we report a hemoglobin (Hb) variant, initially detected by matrix-assisted laser desorption ionisation-time of flight mass spectrometry (MALDI-TOF MS). A 29-year-old woman who presented to our hospital for a medical examination showed a remarkable discrepancy between her fasting plasma glucose level (5.07 mmol/L) and her HbA1c value (3.61%), as determined by capillary electrophoresis (CE). Hemoglobin analysis by MALDI TOF MS revealed an abnormal globin with a mass of 15853 Da. Sanger sequencing identified a novel missense mutation in exon 112 of the β-globin chain [CD 112(G14) Cys > Ser (TGT > TCT); HBB:c.338G > C]. In reference to the birthplace of the proband, this variant was named Hb Jiangxi.\",\"PeriodicalId\":12997,\"journal\":{\"name\":\"Hemoglobin\",\"volume\":\" \",\"pages\":\"294-297\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hemoglobin\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/03630269.2025.2514134\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/3 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hemoglobin","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03630269.2025.2514134","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/3 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

在这里，我们报告了一种血红蛋白（Hb）变异，最初通过基质辅助激光解吸电离飞行时间质谱（MALDI-TOF MS）检测到。1例29岁女性来我院就诊，经毛细管电泳（CE）检测，空腹血糖（5.07 mmol/L）与HbA1c值（3.61%）差异显著。MALDI TOF MS血红蛋白分析显示一个异常的珠蛋白，质量为15853 Da。Sanger测序在β-珠蛋白链外显子112上发现了一个新的错义突变[cd112 (G14) Cys > Ser (TGT > TCT)；[C]。参考先证者的出生地，这种变异被命名为Hb江西。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB: C.338G > C], Was Discovered by MALDI-TOF MS.

Here we report a hemoglobin (Hb) variant, initially detected by matrix-assisted laser desorption ionisation-time of flight mass spectrometry (MALDI-TOF MS). A 29-year-old woman who presented to our hospital for a medical examination showed a remarkable discrepancy between her fasting plasma glucose level (5.07 mmol/L) and her HbA_1c value (3.61%), as determined by capillary electrophoresis (CE). Hemoglobin analysis by MALDI TOF MS revealed an abnormal globin with a mass of 15853 Da. Sanger sequencing identified a novel missense mutation in exon 112 of the β-globin chain [CD 112(G14) Cys > Ser (TGT > TCT); HBB:c.338G > C]. In reference to the birthplace of the proband, this variant was named Hb Jiangxi.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

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