Analysis of genetic diagnosis results of 1501 suspected Cases of thalassemia patients from 2020 to 2022
10.19746/j.cnki.issn1009-2137.2024.06.032
- VernacularTitle:2020-2022年1501例地中海贫血疑似病例基因检测结果分析
- Author:
Xue-Li YANG
1
;
Zhen-Yu LIU
;
Jun-Ning ZHANG
;
Guang-Yu WANG
;
Ji-Ming LI
;
Chun-Hong LI
;
Xian-Liang HOU
Author Information
1. 桂林医学院第二附属医院中心实验室,广西慢性病代谢重塑与智能医学工程重点实验室,广西桂林 541199
- Keywords:
Lingui District,Guilin city;
thalassemia;
genotype;
frequency
- From:
Journal of Experimental Hematology
2024;32(6):1848-1851
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genotypes and frequency distribution of thalassemia in Lingui District,Guilin City,and provide reference for the prevention and control of thalassemia in this area. Methods:The results of genetic testing for thalassemia in 1501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR,the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB). Results:In 1501 samples,a total of 678 cases of thalassemia carriers were detected,with a detection rate of 45.17％. Among them,379 cases were α-thalassemia (including deletional α-thalassemia and non-deletional α-thalassemia),with a detection rate of 25.25％,the most common genotype was--SEA/αα (227 cases,15.12％),followed by-α3.7/αα (53 cases,3.53％). 270 cases of β-thalassemia were detected,with a detction rate of 17.99％,and βCD41-42/βN (144 cases,9.59％) was the main genotypes,followed by βCD17/βN (66 cases,4.40％) . In addition,there were 29 cases of αβ compound thalassemia,accounting for 1.93％,and the most common genotype was--SEA/αα complex βCD41-42/βN (5 cases,0.33％). Conclusion:Lingui District in Guilin City is a high-incidence area of thalassemia,and the genotypes of carriers are complex and diverse,with genetic heterogeneity. The results of this study provide a scientific basis for genetic counseling and prenatal diagnosis in this area.
