Li-Hua Ye, Yuan-Yuan Huang, Zhi-Tai Zhu, Ai-Qiong Jiang, Xue-Lian Shen, Liang Liang, You-Qiong Li
{"title":"α<sup>0</sup>-Thalassemia Caused by a Novel α-Globin Gene Cluster Deletion (-<sup>LB</sup>) Found in a Chinese Family.","authors":"Li-Hua Ye, Yuan-Yuan Huang, Zhi-Tai Zhu, Ai-Qiong Jiang, Xue-Lian Shen, Liang Liang, You-Qiong Li","doi":"10.1080/03630269.2024.2422425","DOIUrl":null,"url":null,"abstract":"<p><p>We report a novel large α-globin gene cluster deletion in a Chinese family from the Guangxi Zhuang Autonomous Regionfor the first time. The proband was a 20-year-old male who presented with microcytic hypochromatosis. Routine genetic analysis showed none of the common mutations in theα-globin and β-globin genes. Multiplex ligation-dependent probe amplification (MLPA) of the α-globin chain revealed there was a large deletion, which removed the entire <i>HBA2</i> and <i>HBA1</i> genes, <i>HBQ</i> gene, <i>HBZ</i> gene, and major regulatory element HS-40, eliminating more than 134 kb from the α-globin chain. Subsequently, pedigree analysis revealed that the proband inherited the novel deletion from his father. By consultation of literature and databases, it was confirmed as a hitherto undescribed chain deletion and named Laibin deletion (-<sup>LB</sup>) for the origin of the proband.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"341-345"},"PeriodicalIF":1.2000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hemoglobin","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03630269.2024.2422425","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/18 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report a novel large α-globin gene cluster deletion in a Chinese family from the Guangxi Zhuang Autonomous Regionfor the first time. The proband was a 20-year-old male who presented with microcytic hypochromatosis. Routine genetic analysis showed none of the common mutations in theα-globin and β-globin genes. Multiplex ligation-dependent probe amplification (MLPA) of the α-globin chain revealed there was a large deletion, which removed the entire HBA2 and HBA1 genes, HBQ gene, HBZ gene, and major regulatory element HS-40, eliminating more than 134 kb from the α-globin chain. Subsequently, pedigree analysis revealed that the proband inherited the novel deletion from his father. By consultation of literature and databases, it was confirmed as a hitherto undescribed chain deletion and named Laibin deletion (-LB) for the origin of the proband.
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
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
