Abstract:
Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest
monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and
the varying degree of severity are less understood and are thought to be governed, in part, by genetic Session 112
expand knowledge on hemoglobinopathy genetics, thus paving the way for advancing the science of personalized diagnosis
and treatment.
Disclosures Archer: Haemonetics: Current equity holder in publicly-traded company. Kuo: Bluebird Bio: Consultancy; Cel gene: Consultancy; Alexion: Consultancy, Honoraria; Apellis: Consultancy; Bioverativ: Membership on an entity’s Board of
Directors or advisory committees; Novartis: Consultancy, Honoraria; P
