Article

Molecular genetics of β-thalassemia

2021-11-12

Abstract excerpt

Abstract β-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia. However, the generation of an additive composite genetic risk score predicts prognosis, and guide management requires a la...

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Literature Corpus work: 77563cee-78a6-5364-a110-8f3771f9d760
DOI: 10.1097/md.0000000000027522

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