Rare double heterozygosity for poly A(A>G) and CD17(A>T) of beta thalassemia intermedia in a Chinese family
Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
PAGEPress Publications
2019-09-01
|
Series: | Hematology Reports |
Subjects: | |
Online Access: | https://www.pagepress.org/journals/index.php/hr/article/view/7911 |