Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, People's Republic of China.
Liuzhou Key Laboratory of Reproductive Medicine, Liuzhou, People's Republic of China.
Hematology. 2023 Dec;28(1):2188651. doi: 10.1080/16078454.2023.2188651.
To investigate the molecular diagnosis of hemoglobin variants in Z region by Capillary electrophoresis in Central Guangxi, Southern China, and analyze their distribution and phenotypic characteristics, to provide a reference for clinical consultation and prenatal diagnosis for couples.
A total of 23,709 subjects were collected for blood routine analysis, hemoglobin analysis, and common α- and β-globin gene loci in Chinese population. The hemoglobin electrophoresis components were divided into Zone 1-Zone 15 (Z1-Z15) by Capillary zone electrophoresis (CE). For samples not clearly detected by the conventional technology, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used. Single-molecule real-time (SMRT) sequencing technology was used to analyze rare-type genes in a sample with a structural variation.
Ten rare hemoglobin variants distributed in Z region were detected in 23,709 samples, including Hb Cibeles, which was reported for the first time in Asia; Hb J-Broussais, Hb G-Honolulu and J-Wenchang-Wuming, they were first reported in Guangxi; 1 case of Hb Anti-Lepore Liuzhou, which was a newly discovered hemoglobin variant; hemoglobin variants Hb G-Siriraj, Hb Handsworth, Hb Q-Thailand, Hb Ube-2, Hb NewYork were also detected.
There are a few studies on rare hemoglobin variants in Z region in Southern China. Ten rare hemoglobin variants were found in this study. The hematological phenotype and component content of hemoglobin variants are related to the occurrence of thalassemia. This study enriched the data of rare hemoglobin variants in Southern China and provided a comprehensive data basis for prenatal diagnosis of hemoglobin variants in this area.
应用毛细管电泳技术对桂中地区人群血红蛋白 Z 区变异进行分子诊断，并分析其分布及表型特征，为临床咨询及夫妇产前诊断提供参考。
收集 23709 例受检者进行血常规、血红蛋白分析及常见的中国人α-和β-珠蛋白基因座检测，采用毛细管区带电泳（CE）技术将血红蛋白电泳组分分为 Z1-Z15 区。对常规技术不能明确检出的样本，采用 Sanger 测序和多重连接探针扩增（MLPA）技术进行检测，对结构变异样本采用单分子实时（SMRT）测序技术分析罕见型基因。
在 23709 例样本中检出 10 种分布于 Z 区的罕见血红蛋白变异，包括首次在亚洲报道的 Hb Cibeles；首次在广西报道的 Hb J-Broussais、Hb G-Honolulu 和 J-Wenchang-Wuming；1 例 Hb Anti-Lepore Liuzhou，为新发现的血红蛋白变异；还检出血红蛋白变异 Hb G-Siriraj、Hb Handsworth、Hb Q-Thailand、Hb Ube-2、Hb NewYork。
南方地区 Z 区罕见血红蛋白变异研究较少，本研究发现 10 种罕见血红蛋白变异，血红蛋白变异的血液学表型和组分含量与地中海贫血的发生相关，本研究丰富了南方地区罕见血红蛋白变异的数据，为该地区血红蛋白变异的产前诊断提供了全面的数据基础。
