Articles with "genotype severity" as a keyword



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Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia.

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Published in 2021 at "British journal of haematology"

DOI: 10.1111/bjh.17897

Abstract: In β-thalassaemia, the severity of inherited β-globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long-term outcomes remain limited. We analysed data from 2109… read more here.

Keywords: thalassaemia; long term; term outcomes; severity groups ... See more keywords