机构:[1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China门急诊片医学遗传科云南省第一人民医院[2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China内科片儿科云南省第一人民医院[3]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China内科片血液内科云南省第一人民医院
Deletional alpha-thalassemia is characterized by reduced hemoglobin A(2) and involves the deletion of a few nucleotides, which is a rare hereditary disease. However, the detection of rare mutations using commonly used genetic tests is highly challenging. In the present study, next-generation sequencing (NGS) was used to identify a novel 7-bp deletion alpha-thalassemia in one individual from a Chinese family. Hematological parameters of the family members were determined using an automated cell counter, and hemoglobin electrophoresis was performed using a capillary electrophoresis system. Subsequently, NGS was performed on the genomic DNA of the patient and her family members. The 7-bp deletion (named Hb Honghe [HBA1: c.401_407delGCACCGT]) of alpha-thalassemia in the alpha-globin gene was confirmed using Sanger sequencing. The patient's father was also a heterozygous carrier of HBA1: c.401_407delGCACCGT deletion, but not her mother or sister. The application of the combined molecular approach is essential for the accurate diagnosis of rare thalassemia. This study reports a novel case of alpha-thalassemia. The characterization of the mutation might provide new insights into genetic counseling and accurate diagnosis of thalassemia.
基金:
National Natural Science Foundation of China [81860040, 82160319]; Young and middle-aged academic and technical leaders of Yunnan Province [202105AC160034]; Famous doctor project of "ten thousand people plan" of Yunnan Province [KH-SWR-MY-2020011]; Open project of Yunnan clinical medical center [2020LCZXKF-XY03]
第一作者机构:[1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China
共同第一作者:
通讯作者:
通讯机构:[1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China[2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China[3]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China[*1]Department of Medical Genetics, the First People’s Hospital of Yunnan Province, Jinbi Road 157, Kunming, Yunnan Province, People’s Republic of China[*2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China[*3]Department of Hematology, the First People’s Hospital of Yunnan Province[*4]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China
推荐引用方式(GB/T 7714):
Wu Bo-Dan,Zhou Xiao-Yan,Xie Mei-Juan,et al.Identification of a Novel 7-bp Deletion in the alpha-Globin Gene Cluster in One Chinese Family[J].HEMOGLOBIN.2023,47(2):49-51.doi:10.1080/03630269.2023.2216890.
APA:
Wu, Bo-Dan,Zhou, Xiao-Yan,Xie, Mei-Juan,Jin, Chan-Chan,Yan, Yuan-Long...&Zhang, Jie.(2023).Identification of a Novel 7-bp Deletion in the alpha-Globin Gene Cluster in One Chinese Family.HEMOGLOBIN,47,(2)
MLA:
Wu, Bo-Dan,et al."Identification of a Novel 7-bp Deletion in the alpha-Globin Gene Cluster in One Chinese Family".HEMOGLOBIN 47..2(2023):49-51