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 language | English |
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Pages (from-to) | 157-160 |
Number of pages | 4 |
Journal | Italian Journal of Pediatrics |
Volume | 29 |
Issue number | 2 |
Publication status | Published - Apr 2003 |
Keywords
- Bleeding events
- Congenital afibrinogenemia
- Genetic study
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health