Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster
10.19746/j.cnki.issn1009-2137.2025.01.025
- VernacularTitle:罕见β-珠蛋白基因簇3.5 kb缺失突变的鉴定
- Author:
Yun-Hua FAN
1
;
Cui-Lin DUAN
;
Sai-Li LUO
;
Shi-Jun GE
;
Chong-Fei YU
;
Jue-Min XI
;
Jia-You CHU
;
Zhao-Qing YANG
Author Information
1. 德宏州人民医院检验科,云南芒市 678400
- Publication Type:Journal Article
- Keywords:
beta-thalassemia;
genetic diseases;
gene mutation;
genetic testing
- From:
Journal of Experimental Hematology
2025;33(1):175-179
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province,and to analyze the genotypes and hematological phenotypes.Methods:Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province,whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations.The mutations of β-globin gene clusters were confirmed by polymerase chain reaction(PCR)and Sanger DNA sequencing technology.Results:The 3.5 kb deletion in β-globin gene cluster(NC_000011.10:g.5224302-5227791 del3490bp)was detected in 4 patients'samples,of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation.These 2 patients displayed moderate anemia phenotype,while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype.Conclusion:Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia,compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia.In areas with a high incidence of thalassemia,suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
