Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population
10.12259/j.issn.2095-610X.S20251110
- VernacularTitle:德宏地区人群地中海贫血基因筛查与诊断结果分析
- Author:
Peng LI
1
;
Wei YI
;
Jie ZHANG
;
Yangjia ZHANG
;
Shijun GE
Author Information
1. 云南省第三人民医院医学检验科,云南 昆明 650011
- Keywords:
Thalassemia;
Genetic diagnosis;
Genetic counseling
- From:
Journal of Kunming Medical University
2025;46(11):74-80
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the carrier rate and mutation spectrum of thalassemia genes in the population in Dehong Prefecture,Yunnan Province,thereby providing a scientific basis for developing precise thalassemia prevention and control strategies in this region.Methods A total of 6946 samples were screened and diagnosed for α-thalassemia and β-thalassemia using genetic screening and diagnostic techniques.The carrier status of thalassemia genes in the population was statistically analyzed.Results Among the 6946 samples,1880 tested positive for thalassemia genes,yielding a positive rate of 27.07%(1880/6946).This study detected 1174 α-thalassemia positive samples,with a positive rate of 16.90%(1174/6946).Among the mutation types,-α3.7/αα was identified as the predominant genotype.There were 493 β-thalassemia positive samples,with a positive rate of 7.10%(493/6946).Among the mutation types,CD26 was the most predominant mutation type.The differences in carrier rates between α-thalassemia and β-thalassemia was statistically significant(P<0.01).Additionally,213 samples were positive for both α-thalassemia and β-thalassemia(compound carriers),with a positive rate of 3.07%(213/6946).There were also 207 intermediate thalassemia positive samples,with a positive rate of 2.98%(207/6946).Among these,the-α3.7/--SEA genotype was the most predominant.Conclusion Dehong region is a high-prevalence area for thalassemia carriers,with a relatively high positive rate for thalassemia.The most common gene mutation type was-α3.7/αα and CD26.
