The genetic spectrum of rare bleeding disorders.

doi:10.1016/j.jtha.2025.06.005

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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...

Topics

Humans
Male
Female
Phenotype
Adult
Middle Aged
Genetic Predisposition to Disease
Rare Diseases
Mutation
Blood Coagulation
Adolescent
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Aged

Child

Blood Coagulation Disorders

Hemorrhagic Disorders

Blood Coagulation Factors

Child, Preschool

Source

Open in PubMed

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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