Molecular basis of rare congenital bleeding disorders.
Bleeding
Factor deficiency
Molecular
Mutation
Rare bleeding disorders
Variant
Journal
Blood reviews
ISSN: 1532-1681
Titre abrégé: Blood Rev
Pays: England
ID NLM: 8708558
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
received:
12
07
2022
revised:
26
09
2022
accepted:
23
10
2022
medline:
18
4
2023
pubmed:
12
11
2022
entrez:
11
11
2022
Statut:
ppublish
Résumé
Rare bleeding disorders (RBDs), including factor (F) I, FII, FV, FVII, combined FV and FVIII (CF5F8), FXI, FXIII and vitamin-K dependent coagulation factors (VKCF) deficiencies, are a heterogeneous group of hemorrhagic disorder with a variable bleeding tendency. RBDs are due to mutation in underlying coagulation factors genes, except for CF5F8 and VKCF deficiencies. FVII deficiency is the most common RBD with >330 variants in the F7 gene, while only 63 variants have been identified in the F2 gene. Most detected variants in the affected genes are missense (>50% of all RBDs), while large deletions are the rarest, having been reported in FVII, FX, FXI and FXIII deficiencies. Most were located in the catalytic and activated domains of FXI, FX, FXIII and prothrombin deficiencies. Understanding the proper molecular basis of RBDs not only can help achieve a timely and cost-effective diagnosis, but also can help to phenotype properties of the disorders.
Identifiants
pubmed: 36369145
pii: S0268-960X(22)00103-5
doi: 10.1016/j.blre.2022.101029
pii:
doi:
Substances chimiques
Blood Coagulation Factors
0
Vitamin K
12001-79-5
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
101029Informations de copyright
Copyright © 2022 Elsevier Ltd. All rights reserved.