Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Yuan-Yuan Huang, Li-Hua Ye, Wei Li, Gui-Xi Wei, Xue-Chun Qin, Hui-Ping Wen, Qing-Yan Zhong, Li-Zhu Chen, De-Jian Yuan
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引用次数: 0

Abstract

This study investigated hemoglobin (Hb) variant prevalence and molecular characteristics in Laibin City, Central Guangxi, China. Using capillary electrophoresis (CE), 33,958 individuals from six regions within Laibin area were screened, with hematological parameters analyzed via automated cell counters. Gap-PCR/RDB-PCR identified common α/β-thalassemia mutations, while Sanger sequencing characterized Hb variants. Single-molecule real-time (SMRT) sequencing was performed to identify breakpoints in a sample with a large duplication and to detect multiple mutations in another sample. Multiple ligation-dependent probe amplification (MLPA) was used for duplication validation. Among 231 Hb variant carriers (0.68% prevalence), 18 mutation types were identified: 7 α-chain, 6 β-chain, and 5 δ-chain variants. Hb New York was most frequent (30.3%, 70/231), followed by Hb E (27.3%, 63/231) and Hb Q-Thailand (20.8%, 48/231). Two novel variants-Hb Laibin (HBA2: c.44T>C) and Hb Anti-Lepore Laibin-were discovered, alongside China's first reported Hb Matsue-Oki case. In conclusion, we observed a high carrying rate of Hb variants in Laibin City. Our findings contribute to the increasing number and diverse heterogeneity of Hb variants in Central Guangxi, which should be useful for genetic counseling and the prevention of hemoglobinopathies. The flexible application of a diverse array of molecular detection techniques is essential to avoid missed diagnoses and achieve high diagnostic efficiency.

广西中部来宾市血红蛋白变异的流行及分子特征
本研究调查了广西中部来宾市血红蛋白(Hb)变异的流行及分子特征。采用毛细管电泳(CE)技术,对来自莱宾地区6个地区的33,958人进行了筛选,并通过自动细胞计数器分析了血液学参数。Gap-PCR/RDB-PCR鉴定了常见的α/β-地中海贫血突变,而Sanger测序鉴定了Hb变异。进行单分子实时(SMRT)测序,以确定具有大量重复的样品中的断点,并检测另一个样品中的多个突变。多重连接依赖探针扩增(MLPA)用于重复验证。在231例Hb变异携带者(患病率0.68%)中,鉴定出18种突变类型:7种α-链、6种β-链和5种δ-链突变。纽约Hb最常见(30.3%,70/231),其次是E Hb(27.3%, 63/231)和q -泰国Hb(20.8%, 48/231)。在中国首次报道的松木乙肝病例中,发现了两种新的变异Hb Laibin (HBA2: C . 44t >C)和Hb Anti-Lepore Laibin。总之,我们在来宾市观察到Hb变异的高携带率。我们的研究结果有助于广西中部Hb变异数量的增加和多样性的异质性,这应该有助于遗传咨询和预防血红蛋白病。灵活应用多种分子检测技术是避免漏诊和提高诊断效率的关键。
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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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