Genotype Analysis of Pregnant Women with α- and β- Thalassemia in Fuzhou Area of Fujian Province in China.
10.19746/j.cnki.issn.1009-2137.2020.04.037
- Author:
Jun-Fang LIN
1
;
Zhi-Yong ZENG
1
;
A-Peng YANG
1
;
Ling ZHENG
1
;
Hong-Bing RUI
1
;
Jun-Min CHEN
2
Author Information
1. Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China.
2. Department of Hematology and Rheumatology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 35005, Fujian Province, China,E-mail: lijingys517@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genotype;
Humans;
Mutation;
Pregnancy;
alpha-Thalassemia;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2020;28(4):1303-1306
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genotype of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China.
METHODS:Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization.
RESULTS:412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as β-thalassemia (31.2%); 32 cases were diagnosed as α and β-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were --/αα, α/αα, -α/αα and αα/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in β- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and β-composite thalassemia, whose major genotypes were --/αα composited CD41-42/N, -α/αα composited CD41-42/N, --/αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively.
CONCLUSION:The major genotypes of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China are --/αα, α/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.
