Human fibrinogen: Molecular and genetic aspects of congenital disorders

Giovanni Luca Tiscia, Maurizio Margaglione

Research output: Contribution to journalReview article

Abstract

Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. However, the acknowledgement of the type of molecular defect is crucial for a safer therapy, which is going to improve the clinical management of these patients. In this review, some aspects concerning molecular and clinical findings available on congenital fibrinogen disorders will be discussed.

Original languageEnglish
Article number1597
JournalInternational Journal of Molecular Sciences
Volume19
Issue number6
DOIs
Publication statusPublished - Jun 1 2018

Keywords

  • Afibrinogenemia
  • Dysfibrinogenemia
  • Hypofibrinogenemia

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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