Genotypic and Phenotypic Analysis of αβ-Thalassemia in Children / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1232-1235, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-775736
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
China
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Genotype
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Journal of Experimental Hematology
Year:
2019
Type:
Article
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