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New GFI1B variants in bleeding and platelet disorders

Platelets restrict blood loss upon vessel damage by formation of a clot (thrombus). Recently, we reported a family with a bleeding and platelet disorder (BPD), which was caused by a defect in the gene GFI1B1.

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European Affairs Committee

Committee members
Elizabeth Macintyre, France (Chair)
Antonio Almeida, Portugal
Natacha Bolaños, Spain (Patient advocate)
Lorenzo Brunetti, Italy
Raffaella Colombatti, Italy
Julio Delgado, Spain
Isabelle Durand-Zaleski, France (Advisory member)
Tarec El-Galaly, Denmark
Martin Kaiser, Germany
Frank Leebeek, The Netherlands (Advisory member)
Kate Morgan, United Kingdom (Patient advocate)
Marek Mraz, Czech Republic
Kostas Stamatopoulos, Greece
AimThe…

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About us

Welcome to the family! Get to know the Young EHA Committee and learn how you can make a difference. Join Young EHA through a junior membership.

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Publications

For the subgroup Rare hereditary blood cancers:
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

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