Anyalysis of Screening and Gene Identification of α-Thalassemia in Child-bearing Population of Conghua District,Guangzhou City
10.3969/j.issn.1671-7414.2024.02.030
- VernacularTitle:广州市从化区育龄人群α-珠蛋白生成障碍性贫血筛查及基因鉴定结果分析
- Author:
Xiaoming QI
1
,
2
;
Zhuorong LÜ
;
Xixi GUO
;
Kunshan ZHANG
;
Yunping ZHONG
;
Aixian CHEN
;
Wuzhong YU
Author Information
1. 广州市从化区妇幼保健院检验科,广州 510920
2. 广州金域医学检验集团股份有限公司,广州 510330
- Keywords:
α-thalassemia;
genotype;
anemia gene carrier rate
- From:
Journal of Modern Laboratory Medicine
2024;39(2):163-167
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the incidence and the types of gene mutations of α-thalassemia in the child-bearing pop-ulation of Conghua District,Guangzhou.Methods Blood samples from 24 083 people of childbearing age were screened by blood cell analysis and hemoglobin electrophoresis,α-globin gene variation was detected by GAP-PCR and PCR reverse dot blot in the positive cases,and 17 common β-globin gene mutations were detected by PCR reverse Dot blot.Results A total of 2 596 cases of α-thalassemia gene abnormality were detected by gene identification,and the abnormal rate was 10.78%.A sum of 170 cases(0.71%)had a compound mutation of α-β gene.There were 2 550 cases(98.23%)of deletion and 46 cases(1.77%)of non-deletion in the mutant genes.There were 14 types of gene mutation,including 5 types of HbH disease(with--SEA/-α3.7 primarily),4 mild types(with 68.61%of--SEA/αα genotype),and 5 quiescent types(the top two genotypes were-α3.7/αα and-α4.2/αα).A total of 23 types of αβ complex gene mutation were detected,and the top six types were--SEA/βCD41-42,-α3.7/βCD41-42,--SEA/β654,--SEA/-28,-α3.7/β654 and-α3.7/βCD17,which accounted for 75.27%of all the complex types.Conclusion The gene abnormality rate of α-thalassemia in Conghua District of Guangzhou City was high.The gene mutation type and constitu-ent ratio,which have their own characteristics,is a special region of α-thalassemia.
