Genotypes of thalassemia in children: an analysis of 30 417 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 841-847, 2021.
Article
em En
| WPRIM
| ID: wpr-888491
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WPRO
ABSTRACT
OBJECTIVES@#To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.@*METHODS@#A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.@*RESULTS@#Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --@*CONCLUSIONS@#There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --
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Base de dados:
WPRIM
Assunto principal:
China
/
Talassemia beta
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Talassemia alfa
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Genótipo
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Heterozigoto
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Mutação
Limite:
Child
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Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Article