UNIGE document Scientific Article
previous document  unige:85853  next document
add to browser collection

Diagnostic des anomalies congénitales du fibrinogène

Lebreton, Aurélien
Published in Annales de biologie clinique. 2016, vol. 74, no. 4, p. 405-412
Abstract Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.
PMID: 27492693
Full text
Article (Author postprint) (391 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Research groups Bases moléculaires des anomalies génétiques de l'hémostase (504)
Geneva Platelet Group (13)
(ISO format)
LEBRETON, Aurélien, CASINI, Alessandro. Diagnostic des anomalies congénitales du fibrinogène. In: Annales de biologie clinique, 2016, vol. 74, n° 4, p. 405-412. https://archive-ouverte.unige.ch/unige:85853

228 hits

1 download


Deposited on : 2016-08-11

Export document
Format :
Citation style :