Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District,Guangzhou
10.19746/j.cnki.issn1009-2137.2024.05.030
- VernacularTitle:广州市花都地区育龄人群常见和罕见地中海贫血基因型分析
- Author:
Ai-Ping JU
1
;
Xiao-Tong FU
;
Keng LIN
;
Bi-Qiu XU
;
Jian-Zhen LIU
;
Yan-Ling QIN
;
Xi-Chong LI
Author Information
1. 广州市花都区妇幼保健院检验科,广东广州 510800
- Keywords:
thalassemia;
genotype;
prevention and control
- From:
Journal of Experimental Hematology
2024;32(5):1496-1502
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou,enhance the database of thalassemia.Methods:Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022.Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes.DNA sequencing was performed in samples suspected of rare genotypes.Results:A total of 16 171 subjects were identified as thalassemia carriers,and the positive rate was 44.41％(16 171/36 412).The genotypes of 114 cases(0.31％)were rare.A total of 10 845 cases were identified as α-thalassemia carriers(29.78％),and--SEA/αα was the most common genotype in those people,followed by-α3.7/αα and-α4.2/αα.A total of 4 531 subjects were identified as common β-thalassemia carriers(12.44％).The most common β-thalassemia mutation in the population was β41-42/βN,followed by β654/βN and β-28/β N.A total of 681 subjects were identified as αβ thalassemia carriers(1.87％),among them--SEA/αα compounded withβ CD41-42/β N was the most common genotype.A total of 48 cases were identified as rare α-thalassemia carriers,14 types of mutations,in which Fusion gene/αα was the most common.A total of 52 cases were identified as rare β-thalassemia carriers,11 types of mutation,in which βSEA-HPFH/βN was the most common.Conclusion:The thalassemia genotypes in Huadu district are complex and diverse.We should attach great importance to the detection of rare thalassemia genotypes.
