Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
KingMed School of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China.
Mol Genet Genomic Med. 2024 Sep;12(9):e70012. doi: 10.1002/mgg3.70012.
Haemoglobinopathy 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.
Peripheral 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.
The 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.
We 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.
血红蛋白病是一组常见的单基因遗传性疾病，与血红蛋白分子的变异有关；然而，关于中国人中异常血红蛋白病的报道相对较少，特别是罕见的异常血红蛋白（Hb）。本研究旨在探讨血红蛋白病的临床特征，为中国广东省 Hb 变异的流行病学调查补充数据。
采集 5 名患者（包括一个家系）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珠蛋白小体检测。进一步通过 PCR 和 DNA 测序分析 Hb 变异。
研究对象被诊断为不同类型的异常 Hb。Hb Fukuyama（HBB：c.232C>T）诊断个体的血常规显示小细胞低色素性贫血，Hb 水平较低（64g/L），平均红细胞体积（MCV）为 71.5fL，平均红细胞血红蛋白（MCH）为 21.5pg。Hb Port Phillip（HBA2：c.275T>C）诊断个体的 MCH 水平略低于平均水平，为 26.4pg。Hb Saint Etienne（HBB：c.279C>G）诊断个体表现为大细胞低色素性贫血，先证者 Hb 水平较低（116g/L），MCV 为 102.2fL，MCH 为 29.4pg。
我们首次在中国证实了 Hb Fukuyama（HBB：c.232C>T）的存在。纳入了 3 名罕见的 Hb Saint Etienne（HBB：c.279C>G）表型患者和 1 名 Hb Port Phillip（HBA2：c.275T>C）表型患者。本研究丰富了广东省血红蛋白病的基因突变图谱，提高了人群预防和优生学的血红蛋白病检测体系。
