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Thesis

Reactivating embryonic 𝜁-globin expression in definitive erythropoiesis

Abstract:

⍺-thalassaemia is one of the commonest forms of inherited anaemia, with about 5% of the world’s population estimated to carry an ⍺-thalassaemia variant. The commonest variant associated with ⍺0-thalassaemia is the SEA deletion, which removes both ⍺-globin genes but leaves the embryonically expressed ⍺-like 𝜁-globin gene intact and available for reactivation.

𝜁-globin is expressed in primitive erythropoiesis in the yolk sac and is silenced at about 8 weeks gestation in humans. Derepress...

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Authors

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Institution:
University of Oxford
Division:
MSD
Department:
Radcliffe Department of Medicine
Sub department:
RDM-Weatherall Inst of Molecular Medicine
Role:
Author

Contributors

Institution:
University of Oxford
Division:
MSD
Department:
Radcliffe Department of Medicine
Sub department:
RDM-Weatherall Inst of Molecular Medicine
Role:
Supervisor
ORCID:
0000-0003-3579-8705
Institution:
University of Oxford
Division:
MSD
Department:
Radcliffe Department of Medicine
Sub department:
RDM-Weatherall Inst of Molecular Medicine
Role:
Supervisor
ORCID:
0000-0002-4108-4357

More from this funder
Funder identifier:
https://ror.org/029chgv08
Funding agency for:
Ejaz, A

DOI:
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

Language:
English
Keywords:
Pubs id:
2420733
Local pid:
pubs:2420733
Deposit date:
2026-05-01
ARK identifier:

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