Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations.
Clot structure
Fibrinogen
Frameshift mutation
Hypodysfibrinogenemia
Laser scanning confocal microscopy
Missense mutation
Scanning electron microscopy
Journal
Thrombosis research
ISSN: 1879-2472
Titre abrégé: Thromb Res
Pays: United States
ID NLM: 0326377
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
10
06
2020
revised:
18
09
2020
accepted:
01
11
2020
pubmed:
14
11
2020
medline:
22
6
2021
entrez:
13
11
2020
Statut:
ppublish
Résumé
Congenital hypodysfibrinogenemia is a rare fibrinogen disorder, defined by decreased levels of a dysfunctional fibrinogen. We present the functional and structural characterization of two new fibrinogen variants. A duplication of 32 bases in FGA exon 5, p.Ser382GlyfsTer50 was identified in a patient (P1) with history of hemoptysis and traumatic cerebral bleeding. A missense mutation in FGG exon 8, p.Ala353Ser was identified in two siblings (P2 and P3) with tendency to bruising and menorrhagia. Fibrin polymerization was studied in plasma and in purified fibrinogen by turbidimetry. Fibrin structure was studied by a permeability assay, laser scanning confocal microscopy (LSCM) and scanning electron microscopy (SEM). In both plasma and purified fibrinogen samples, all patients had an abnormal polymerization characterized by a decreased maximal absorption compared to controls. The permeation constant (Ks) was markedly increased in all patients: 31 ± 9 × 10
Identifiants
pubmed: 33186848
pii: S0049-3848(20)30598-3
doi: 10.1016/j.thromres.2020.11.003
pii:
doi:
Substances chimiques
Fibrin
9001-31-4
Fibrinogen
9001-32-5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
56-64Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.