Thromb Haemost 2010; 104(06): 1274-1276
DOI: 10.1160/TH10-04-0252
Letters to the Editor
Schattauer GmbH

Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

Stephen O. Brennan
1   Molecular Pathology Laboratory, Pathology Department, University of Otago, Christchurch, New Zealand
,
Ryan L. Davis
1   Molecular Pathology Laboratory, Pathology Department, University of Otago, Christchurch, New Zealand
› Author Affiliations
Further Information

Publication History

Received: 26 April 2010

Accepted after minor revision: 12 August 2010

Publication Date:
24 November 2017 (online)

 

 
  • References

  • 1 Tennent GA, Brennan SO, Stangou AJ. et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
  • 2 Huang S, Cao Z, Chung DW. et al. The role of Aα and Bβ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-7.
  • 3 Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90 Available at: http://www.geht.org/databaseang/fibrinogen/
  • 4 Gillmore JD, Lachmann HJ, Rowczenio D. et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen Aα-chain amyloidosis. J Am Soc Nephrol 2009; 20: 444-451.
  • 5 Stangou AJ, Banner NR, Hendry BM. et al. Hereditary fibrinogen Aα-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation. Blood 2010; 115: 2998-3007.
  • 6 Brennan SO, Wyatt J, Medicina D. et al. Fibrinogen Brescia: hepatic endoplasmic reticulum storage and hypofirbinogenemia becuase of a γ284 Gly→Arg mutation. Am J Pathol 2000; 157: 189-196.
  • 7 Brennan SO, Maghzal G, Shneider BL. et al. Novel fibrinogen γ375 Arg→Trp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-658.
  • 8 Dib N, Quelin F, Ternisien C. et al. Fibrinogen Angers with a new deletion (γ ΔGVYYQ 346–350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007; 5: 1999-2005.
  • 9 Furuya KN, Davis RL, Savo AM. et al. Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) identified causing hepatic fibrinogen storage disease. Hepatology 2009; 50: 756A.
  • 10 Martinez J, MacDonald KA, Palascak JE. The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. Blood 1983; 61: 1196-1202.
  • 11 Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-1058.
  • 12 Yee VC, Pratt KP, Cote HC. et al. Crystal structure of a 30 kDa C-terminal fragment from the γ chain of human fibrinogen. Structure 1997; 5: 125-138.
  • 13 Ivaskevicius V, Pötzsch B, Harbrecht U. et al. A case of sporadic hypodysfibrinogenemia. Abstract, 53rd Annual Meeting, (German) Society of Thrombosis and Haemostasis Research, 2009. Available at: http://www.gth-online.org/home/jahrestagung/2009/GTH_2009_Posters_Hemorrhagic_Disorders.pdf
  • 14 Morris TA, Marsh JJ, Chiles PG. et al. High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. Blood 2009; 114: 1929-1936.