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Article

The genetic spectrum of rare bleeding disorders.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2025

Mohsenian Samin, Seidizadeh Omid, Cairo Andrea, Palla Roberta, Menegatti Marzia, Peyvandi Flora

Abstract excerpt

BACKGROUND: Rare bleeding disorders (RBDs) account for almost 3% to 5% of bleeding disorders. Because of their rarity, phenotype and genotype analyses have been conducted in only a limited number of cases. OBJECTIVES: To characterize the laboratory phenotype and genetic spectrum of a large international cohort of RBDs. METHODS: A total of 807 individuals suspected of having RBDs were collected (2001-2020). The...

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PMID: 40505867
DOI: 10.1016/j.jtha.2025.06.005

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