Analysis on the Genotype of 5018 Cases of Thalassemia in Hunan Area.
10.7534/j.issn.1009-2137.2019.06.037
- Author:
Qin LIU
1
;
Zheng-Jun JIA
1
;
Hui XI
1
;
Jing LIU
1
;
Ying PENG
1
;
Hua WANG
2
Author Information
1. Department of Medical Genetics, Maternal and Children Health Hospital of Hunan, Changsha 410008, Hunan Province, China.
2. Department of Medical Genetics, Maternal and Children Health Hospital of Hunan, Changsha 410008, Hunan Province, China,E-mail: wanghua213@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Female;
Genotype;
Heterozygote;
Humans;
Mutation;
Pregnancy;
Prenatal Diagnosis;
alpha-Thalassemia;
genetics;
beta-Thalassemia;
genetics
- From:
Journal of Experimental Hematology
2019;27(6):1938-1942
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the type and distritution of thalassemia gene mutaitons in Hunan area, so as to provide evidence for prenatal screening, diagnosis and reduction of birth defects.
METHODS:A total of 5018 cases from Maternal and Children Health Hospital of Hunan from June 2017 to Dec 2018 were undergone thalassemia gene mutation analysis. The reverse dot blot hydridization was used to detect 6 kinds of genotypes of α-thalassemia and 17 kinds of point mutations of β-thalassemia, and the detected data were analyzed statistically.
RESULTS:889 cases (55.9%) of α-thalassemia carriers were found, including 385 cases of silent α-thalassemia, 488 cases of α-thalassemia trait, 16 cases of Hb H disease. --/αα was the most common genotype in α thalassemia. 664 cases (41.7%) were diagnosed as β-thalassemia carriers, heterozygotes accounted for 99.8% (663/664), IVS-Ⅱ-654, CD41-42M and CD17M were the main genotypes, and compound heterozygote accounted for 0.2% (1/664). 38 cases were diagnosed as α-thalassemia combined β-thalassemia.
CONCLUSION:The constituent ratio of thalassemia gene mutations in Hunan has regional characteristics, --/αα is the most common genotype in α-thalassemia carrier. IVS-Ⅱ-654, CD41-42 and CD17 are common ones in β-thalassemia. The frequency of α-thalassemia combined with β-thalassemia is high.
