Genetic screening and typing of suspected Mediterranean anemia patients among Bouyei in Qianxinan Bouyei and Miao Autonomous Prefecture
10.3760/cma.j.cn231583-20250102-00006
- VernacularTitle:黔西南布依族苗族自治州布依族疑似地中海贫血患者基因筛查及分型研究
- Author:
Hong ZHAO
1
;
Hongmei MURONG
1
;
Qiong LI
1
;
Xiuxiu ZHANG
1
Author Information
1. 贵州省黔西南州人民医院产前诊断中心，黔西南布依族苗族自治州 562400
- Publication Type:Journal Article
- Keywords:
Thalassemia;
Bouyei;
High-throughput sequencing;
Gene sequencing
- From:
Chinese Journal of Endemiology
2025;44(11):877-883
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To screen the genes of suspected Mediterranean anemia patients (thalassemia) among the Bouyei in Qianxinan Bouyei and Miao Autonomous Prefecture (referred to as Qianxinan Prefecture) and to learn about the genotype and spatial distribution of thalassemia.Methods:The study subjects were Bouyei suspected thalassemia patients who visited Qianxinan Prefecture People's Hospital from November 2020 to September 2024 ( n = 4 055). Gap polymerase chain reaction (Gap-PCR) and high-throughput sequencing were used to screen for genetic variations in thalassemia. Based on the screening data, ArcMap 10.8.2 software was used to draw a spatial distribution map of thalassemia. Results:A total of 2 467 cases of thalassemia genes were detected, with an overall detection rate of 60.84%. Among them, 1 474 cases of α-thalassemia were detected, with a detection rate of 36.35%; 757 cases of β-thalassemia were detected, with a detection rate of 18.67%; and 236 cases of αβ-combined thalassemia were detected, with a detection rate of 5.82%. The spatial distribution showed that the overall detection rate of thalassemia among Bouyei in Zhenfeng County was the highest (66.83%, 268/401), the detection rate of α-thalassemia in Xingyi City was the highest (39.20%, 305/778), the detection rate of β-thalassemia in Anlong County was the highest (23.71%, 55/232), while the detection rate of αβ-combined thalassemia in Ceheng County was the highest (7.75%, 95/1 226).Conclusions:The detection rate of suspected thalassemia genes in Bouyei patients in Qianxinan Prefecture is relatively high, with α-thalassemia being predominant, and there are significant spatial distribution differences.
