Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster.
10.19746/j.cnki.issn.1009-2137.2025.01.025
- Author:
Yun-Hua FAN
1
;
Cui-Lin DUAN
2
;
Sai-Li LUO
1
;
Shi-Jun GE
1
;
Chong-Fei YU
1
;
Jue-Min XI
3
;
Jia-You CHU
3
;
Zhao-Qing YANG
3
Author Information
1. Department of Clinical Laboratory Examination, People's Hospital of Dehong Prefecture, Mangshi 678400, Yunnan Province, China.
2. Kunming Medical University, Kunming 650500, Yunnan Province, China.
3. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming 650118, Yunnan Province, China.
- Publication Type:Journal Article
- Keywords:
beta-thalassemia;
genetic diseases;
gene mutation;
genetic testing
- MeSH:
Humans;
beta-Globins/genetics*;
Multigene Family;
beta-Thalassemia/genetics*;
Mutation;
Genotype;
Sequence Deletion;
Phenotype;
Male;
Female
- 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. 5224302-5227791del3490bp) 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.
