罕见异常血红蛋白的血液学表型和分子特征分析

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2024-09-12 DOI:10.1002/mgg3.70012

Yanfen Ge, Guansheng Zheng, Luhua Xian, Yanfei Luo, Junru Liu, Ting Lin, Wenhao Cui, Yujing Yang, Huizhuang Shan

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引用次数: 0

摘要

背景血红蛋白病是指一组与血红蛋白分子变异有关的常见单基因遗传病；然而，有关中国人群异常血红蛋白病，尤其是罕见异常血红蛋白（Hb）的报道相对有限。本研究旨在探讨血红蛋白病的临床特征，为中国广东省血红蛋白变异的流行病学调查提供补充数据。方法采集五名患者（包括一个家庭）的外周血，进行全血细胞计数、血红蛋白电泳、高效液相色谱分析和变性球蛋白体检测。研究对象被诊断为不同类型的 Hb 异常。福山血红蛋白（HBB:c.232C>T）患者的血常规显示为小细胞低色素性贫血，血红蛋白水平较低（64 g/L），平均血球容积（MCV）为 71.5 fL，平均血红蛋白（MCH）为 21.5 pg。Hb Saint Etienne (HBB:c.279C>G)患者表现为巨幼红细胞低色素性贫血，其 Hb 水平低（116 g/L），MCV 为 102.2 fL，MCH 为 29.4 pg。我们的研究还包括三名罕见的 Hb Saint Etienne（HBB:c.279C>G）表型患者和一名 Hb Port Phillip（HBA2:c.275T>C）表型患者。我们的研究丰富了广东省血红蛋白病的基因突变图谱，完善了血红蛋白病的检测系统，为人口预防和优生优育工作提供了依据。

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Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin

BackgroundHaemoglobinopathy refers to a group of common monogenic inherited conditions associated with variations in the haemoglobin molecule; however, there is relatively limited reporting on abnormal haemoglobinopathy in the Chinese population, especially rare abnormal haemoglobin (Hb). The aim of this study was to explore the clinical characteristics of haemoglobinopathy to supplement data for the epidemiological investigation of Hb variants in Guangdong province of China.MethodsPeripheral blood was collected from five patients (including a family) for Complete blood count, Hb electrophoresis, High‐performance liquid chromatography analysis and degenerative globin body testing. Hb variants were further analysed by PCR and DNA sequencing.ResultsThe research subjects were diagnosed with different types of abnormal Hb. The blood routine of the Hb Fukuyama (HBB:c.232C>T) diagnosed individual showed microcytic hypochromic anaemia, with a lower Hb level (64 g/L), mean corpuscular volume (MCV) of 71.5 fL and mean corpuscular haemoglobin (MCH) of 21.5 pg. Individuals diagnosed with Hb Port Phillip (HBA2:c.275T>C) exhibit a MCH level that is slightly below average, at 26.4 pg. The Hb Saint Etienne (HBB:c.279C>G) diagnosed individual showed macrocytic hypochromic anaemia, and the proband had a low Hb level (116 g/L), MCV of 102.2 fL and MCH of 29.4 pg.ConclusionWe confirmed the presence of Hb Fukuyama (HBB:c.232C>T) in China for the first time. Three rare patients with the Hb Saint Etienne (HBB:c.279C>G) phenotype and one patient with Hb Port Phillip (HBA2:c.275T>C) phenotype were included. Our research enriches the gene mutation map of haemoglobinopathy in Guangdong province and improves the detection system of haemoglobinopathy for population prevention and eugenics.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.