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Article

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.

Annals of hematology - 2 Mar 2026

Urbański Bartosz, Bąbol-Pokora Katarzyna, Braun Marcin, Janczar Szymon, Michalak Marta, Sałacińska-Łoś Elżbieta, Młynarski Wojciech, Treliński Jacek

Abstract excerpt

Inherited thrombocytopenias (ITs) constitute a heterogeneous group of congenital bleeding disorders caused by defects in over 50 genes that predominantly affect platelet production. GFI1B has recently emerged as a critical transcriptional regulator of megakaryocyte and erythroid differentiation. Its dysfunction underlies a rare autosomal dominant form of IT, which usually results in moderately reduced platelet...

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Identifiers

PMID: 41766040
DOI: 10.1007/s00277-026-06921-5
PMCID: PMC12950648

Genes

GFI1B
CD34

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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