Diagnosis and management of factor XI alloinhibitors in patients with congenital factor XI deficiency—A large single‐centre experience

Introduction Factor (F) XI deficiency is an inherited bleeding disorder with increased prevalence in Ashkenazi Jews where it is mainly caused by two variants, p.Glu135* (type II, leading to a null allele) and p.Phe301Leu (type III, missense variant). Inhibitor development is rare, and only seen in s...

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Bibliographic Details
Published in:Haemophilia : the official journal of the World Federation of Hemophilia 2024-09, Vol.30 (5), p.1155-1163
Main Authors: Kamel, Kirollos Salah, Riddell, Anne, Jradeh, Bilal, Jaslowska, Ewa, Gomez, Keith
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Alleles
bethesda assay
Bleeding
bleeding disorders
Child
Coagulation factor VIIa
Coagulation factors
factor XI
Factor XI - genetics
Factor XI - metabolism
Factor XI deficiency
Factor XI Deficiency - diagnosis
Factor XI Deficiency - genetics
Female
Genotypes
Humans
inhibitors
Male
Middle Aged
Patients
Phenotypes
Retrospective Studies
thrombogenomics
Young Adult
Citations: Items that this one cites
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Summary:Introduction Factor (F) XI deficiency is an inherited bleeding disorder with increased prevalence in Ashkenazi Jews where it is mainly caused by two variants, p.Glu135* (type II, leading to a null allele) and p.Phe301Leu (type III, missense variant). Inhibitor development is rare, and only seen in severe FXI deficiency (
ISSN:1351-8216
1365-2516
1365-2516
DOI:10.1111/hae.15081