A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.

Abstract

Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder, characterized by an inconsistent bleeding tendency, mainly associated with injury or surgery. Although most of the F11 gene mutations cause a true quantitative deficiency of FXI (cross-reacting material-negative, CRM-), very few variants characterized by a qualitative abnormality resulting in a discrepant FXI activity/FXI antigen ratio (CRM positive, CRM+) have been reported. We describe here a novel CRM+ mutation (His127Arg) identified in an asymptomatic woman from Indonesia and in her two sons.

• Authors: Giancarlo Castaman, Sofia H Giacomelli, Annarita Tagliaferri, Francesco Rodeghiero
• Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (Blood Coagul Fibrinolysis) Vol. 24 Issue 6 Pg. 670-2 (Sep 2013) ISSN: 1473-5733 [Electronic] England
• PMID: 23571684 (Publication Type: Case Reports, Journal Article)

Chemical References

• Factor XI

Topics

• Factor XI (genetics)
• Factor XI Deficiency (blood, genetics)
• Female
• Heterozygote
• Humans
• Middle Aged
• Models, Molecular
• Mutation, Missense