Congenital afibrinogenemia

G. Mancuso, C. Scalici, R. Potenzano, M. E. Mancuso

Research output: Contribution to journalArticlepeer-review

Abstract

Afibrinogenemia is an extremely rare hereditary hemorrhagic disorder, characterized by the absence of, or very low fibrinogen levels. The authors report on a case of congenital afibrinogenemia and describe the currently available treatment options for the different types of bleeding events. This rare condition seems to be caused by a mutation leading to a premature stop codon in the fibrinogen Aα-chain that blocks fibrinogen synthesis.

Original languageEnglish
Pages (from-to)157-160
Number of pages4
JournalItalian Journal of Pediatrics
Volume29
Issue number2
Publication statusPublished - Apr 2003

Keywords

  • Bleeding events
  • Congenital afibrinogenemia
  • Genetic study

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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