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Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.

Human genetics - 24 Feb 2026

Ren Juan, Yu Yalin, Wang Duanyang, Fang Shuai, Chen Xiuhua, Hao Lixia, Zhao Jiaoyu, Wang Lei, Yang Linhua, Wang Gang

Abstract excerpt

Hereditary factor XI (FXI) deficiency is a rare bleeding disorder characterized by diminished plasma FXI activity (FXI: C) due to F11 gene mutations. Clinical manifestations are often asymptomatic or involve mild-to-moderate bleeding, typically occurring after trauma or surgery involving tissue with high fibrinolytic activity. The molecular basis of FXI deficiency is widely heterogeneous across different...

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PMID: 41733767
DOI: 10.1007/s00439-026-02819-4

Genes

F11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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