Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 170-174, 2019.
Article
em Zh
| WPRIM
| ID: wpr-774341
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.@*METHODS@#A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.@*RESULTS@#There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively.@*CONCLUSION@#β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
China
/
Testes Genéticos
/
Prevalência
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Talassemia beta
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Genética
/
Mutação
Tipo de estudo:
Prevalence_studies
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Prognostic_studies
Limite:
Humans
/
Newborn
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Ano de publicação:
2019
Tipo de documento:
Article