Article
Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity.
Annals of hematology - 1 Apr 2020
Azman Nurul Fatihah, Abdullah Wan Zaidah, Hanafi Sarifah, Diana R, Bahar Rosnah, Johan Muhammad Farid, Zilfalil Bin Alwi, Hassan Rosline
Abstract excerpt
HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder. The aim of this study was to determine the genetic polymorphisms which were responsible for the disease clinical diversity. A case-control...
Topics
- Case-Control Studies
- Child
- Ethnicity
- Female
- Genetic Association Studies
- Genome-Wide Association Study
- Hemoglobin E
- Hemoglobinuria
- Heterozygote
- Humans
- Malaysia
- Male
- Phenotype
- Polymorphism, Single Nucleotide