Genetic screening and typing study of Thalassemia among ethnic Miao Group in Qianxinan area of China.
10.3760/cma.j.cn511374-20250428-00260
- Author:
Xiuxiu ZHANG
1
;
Yan HE
;
Yonghui LIAO
;
Panpan LI
;
Dachun TANG
;
Hong ZHAO
;
Hongmei MURONG
Author Information
1. Prenatal Diagnostic Center, People's Hospital of Qianxinan Prefecture, Qianxinan Buyi and Miao Autonomous Prefecture, Guizhou 562400, China. 1515005548@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
China/ethnology*;
Female;
Male;
Genetic Testing;
Adult;
alpha-Thalassemia/genetics*;
Thalassemia/ethnology*;
Ethnicity/genetics*;
Genotype;
beta-Thalassemia/ethnology*;
Adolescent;
Mutation;
Middle Aged;
Child;
Asian People/genetics*;
Young Adult
- From:
Chinese Journal of Medical Genetics
2025;42(11):1316-1321
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture.
METHODS:Ethnic Miao people suspected for thalassemia trait at the People's Hospital of Qianxinan Prefecture, Guizhou Province between November 2020 to September 2024 were selected as the study subjects. Gap-PCR technology combined with high-throughput sequencing was used to screen a total of 666 individuals. ArcMap v10.8.2 was used to create a spatial distribution map of thalassemia based on the screening results. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2016-01).
RESULTS:In total 254 positive cases were detected, with an overall positive rate of 38.14%. Among these, 173 cases were α-thalassemia (25.98%), 77 cases were β-thalassemia (11.56%), and 4 cases were αβ compound thalassemia (0.60%). The most common genotypes for α-thalassemia were αα/--SEA (positive rate = 10.06%, accounting for 38.73%), αα/-α3.7 (positive rate = 8.86%, accounting for 34.10%), and αCSα/αα (positive rate = 4.95%, accounting for 19.08%). The most common genotypes for β-thalassemia were β41/42(-TTCT)/βA (positive rate = 5.11%, accounting for 44.16%) and β17 (A>T)/βA(positive rate = 4.20%, accounting for 36.36%), with these two genotypes accounting for as much as 80.52%. The spatial distribution map indicated that the highest overall detection rate of thalassemia and α-thalassemia in the Miao population of Qianxinan Prefecture was in Xingyi City. The highest detection rate of β-thalassemia was in Zhenfeng County, and the highest detection rate of αβ compound thalassemia was in Wangmo County.
CONCLUSION:The detection rate of thalassemia among the ethnic Miaos from Qianxinan Prefecture is relatively high, which primarily consisted of α-thalassemia. Regular monitoring and educational outreach should be conducted.
