Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity

@article{Azman2020GeneticPO,
  title={Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity},
  author={Nurul Fatihah Azman and Wan Zaidah Abdullah and Sarifah Hanafi and R. Diana and Rosnah Bahar and Muhammad Farid Johan and Bin Alwi Zilfalil and Rosline Hassan},
  journal={Annals of Hematology},
  year={2020},
  volume={99},
  pages={729-735}
}
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 study was conducted among Malay transfusion-dependent HbE/β-thalassemia patients… 

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