Genotypic and Phenotypic Analysis of αβ-Thalassemia in Children.
10.19746/j.cnki.issn.1009-2137.2019.04.039
- Author:
Zhen-Min REN
1
;
Wei-Wei XIAO
1
;
Si-Xi LIU
2
;
Yong-Qiu LIU
1
;
Bing LI
1
;
Yun-Sheng CHEN
3
Author Information
1. Department of Laboratorial Medicine, Shenzhen Children＇s Hospital, Shenzhen 518038, Guangdong Province, China.
2. Department of Hematology & Oncology, Shenzhen Children＇s Hospital, Shenzhen 518038, Guangdong Province, China.
3. Department of Laboratorial Medicine, Shenzhen Children＇s Hospital, Shenzhen 518038, Guangdong Province, China,E-mail:chenyunsheng66@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Genotype;
Humans;
Phenotype;
alpha-Thalassemia;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2019;27(4):1232-1235
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genotype and hematological characteristics of children with αβ-thalassemia in Shenzhen area of China.
METHODS:The erythrocyte parameters and hemoglobin components of the children were determined by blood routine examination and capillary electrophoresis (CE). Reverse dot blot (RDB) -polymerase chain reaction (PCR) was used to determine gene mutations in α- and β-thalassemia children. The Gap-PCR was used to determine the gene deletion of α-thalassemia children，while specimens suspected HKαα were determined with nested PCR.
RESULTS:Total of 29 complex genotypes were detected from 74 cases of αβ-thalassemia, among which 1 case was determined as β-thalassemia with αααanti4.2/αα and 5 cases were double heterozygous β-thalassemia combining α-thalassemia with intermediate phenotype. 1 case of β-28/βcap+40-43 double heterozygotes combined with --/αα and the other 62 cases were characterized by light β-thalassemia, 2 cases ofβCAP+40-43/βN with --/αα showed light α-thalassemia.
CONCLUSION:The genotypes of αβ-thalassemia in Shenzhen area of China are complex and diverse. The common complex genotypes are similar to those of simple β-thalassemia. If the genotype and phenotype are not consistent, the existence of rare genotype should be considered.
