Thromb Haemost 2007; 98(03): 689-691
DOI: 10.1160/TH07-01-0075
Letters to the Editor
Schattauer GmbH

Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations(γAla341Thr, Bβ Tyr326Cys and Aα Asp496Asn)

Michel Hanss
1   Laboratoire d’Hématologie, Groupe Hospitalier Est, Bron, France
2   Service des Maladies du Sang, Hôpital Herriot, Lyon, France
,
Caroline Chevreaud
3   Laboratoire de Biologie, Hôpital de Poissy-St-Germain, and Faculté de Médecine Paris Ile de France-Ouest, UPRES EA 2493, France
,
Patrick French
1   Laboratoire d’Hématologie, Groupe Hospitalier Est, Bron, France
2   Service des Maladies du Sang, Hôpital Herriot, Lyon, France
,
Claude Négrier
2   Service des Maladies du Sang, Hôpital Herriot, Lyon, France
4   Laboratoire d’Hématologie, Hôpital Herriot, Lyon, France
,
Philippe de Mazancourt
3   Laboratoire de Biologie, Hôpital de Poissy-St-Germain, and Faculté de Médecine Paris Ile de France-Ouest, UPRES EA 2493, France
› Author Affiliations
Further Information

Publication History

Received 31 January 2007

Accepted after resubmission 13 June 2007

Publication Date:
28 November 2017 (online)

 

 
  • References

  • 1 Mosesson MW. Fibrinogen and fibrin structure and functions. J Thromb Haemost 2005; 3: 1894-1904.
  • 2 Maghzal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-1438.
  • 3 Sheen CR, Brennan SO, Jabado N. et al. Fibrinogen Montreal: a novel missense mutation (Aα D496N) associated with hypofibrinogenaemia. Thromb Haemost 2006; 96: 231-232.
  • 4 Sheen CR, Low J, Joseph J. et al. Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications. Thromb Haemost 2006; 96: 685-687.
  • 5 Vu D, de Moerloose P, Batorova A. et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
  • 6 Brennan SO, Sheen CR, George PM. Novel gamma230 Asn→Asp substitution in fibrinogen Middlemore associated hypofibrinogenaemia. Thromb Haemost 2005; 93: 1196-1197.
  • 7 Hanss M, French P, Vinciguerra C. et al. Four cases of hypofibrinogenemia associated with four novel mutations. J Thromb Haemost 2005; 3: 2347-2349.
  • 8 Dear A, Brennan SO, Dempfle CE. et al. Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala→Val substitution (fibrinogen Dorfen). Thromb Haemost 2004; 92: 1291-1295.
  • 9 Dear A, Dempfle CE, Brennan SO. et al. Fibrinogen Mannheim II: a novel gamma307 His→Tyr substitution in the gammaD domain causes hypofibrinogenemia. J Thromb Haemost 2004; 2: 2194-2199.
  • 10 de Raucourt E, de Mazancourt P, Maghzal GJ. et al. Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous γ N345S mutation. Thromb Haemost 2005; 94: 965-968.
  • 11 Zhang JZ, Redman CM. Identification of Bbeta chain domains involved in human fibrinogen assembly. J Biol Chem 1992; 267: 21727-21732.
  • 12 Yu S, Sher B, Kudryk B. et al. Fibrinogen precursors. Order of assembly of fibrinogen chains. J Biol Chem 1984; 259: 10574-10581.
  • 13 Brennan SO, Homer VM, Davis RL. et al. Hypofibrinogenaemia associated with common gamma82Ala>Gly mutation is not mediated by altered mRNA splicing. Thromb Haemost 2006; 96: 535-537.