Novel fibrinogen (Bβ401Gly→Val) presents as dys- or hypodysfibrinogenaemia due to alterations in sialic acid content

Stephen O. Brennan; Fernando Roncolato

doi:10.1160/TH11-05-0287

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2011; 106(03): 551-553
DOI: 10.1160/TH11-05-0287

Letters to the editor

Schattauer GmbH

Novel fibrinogen (Bβ401Gly→Val) presents as dys- or hypodysfibrinogenaemia due to alterations in sialic acid content

Stephen O. Brennan

¹Molecular Pathology Laboratory, Pathology Department, University of Otago, Christchurch, New Zealand

,

Fernando Roncolato

²Department of Haematology, St George Hospital, Kogarah, New South Wales, Australia

› Author Affiliations

Abstract

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References

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 βγ and αγ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-27947.
3 Townsend RR, Hilliker E, Li Y-T. et al. Carbohydrate structure of human fibrinogen. J Biol Chem 1982; 257: 9704-9710.
4 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.
5 Gralnick HR, Givelber H, Abrams E. Dysfibrinogenemia associated with hepatoma. N Engl J Med 1978; 229: 221-226.
6 Brennan SO, Wyatt J. Medicina 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 GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007; 5: 1999-2005.
9 Brennan SO, Davis RL, Conard K. et al. Novel fibrinogen mutation γ314ThrPro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int 2010; 30: 1541-1547.
10 Brennan SO, Davis RL. Substitution γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content. Thromb Haemost 2010; 104: 1274-1276.
11 Fellowes AP, Brennan SO. et al. Electrospray ionisation mass spectrometry identification of fibrinogen Banks peninsula (γ280 Tyr→Cys): a new variant with defective polymerisation. Br J Haematol 1998; 101: 24-31.
12 Brennan SO, Fellowes AP, Faed JM. et al. Hypofibrinogenemia in an individual with two coding (γ82 Ala→Gly and Bß235 Pro→Leu) and two non-coding mutations. Blood 2000; 95: 1709-1713.
13 Davis RL, Brennan SO. Fibrinogen Tolaga Bay: A novel γA341V mutation causing hypofibrinogenaemia. Thromb Haemost 2007; 98: 1136-1138.
14 Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-462.
15 Kruse KB, Dear A, Kaltenbrun ER. et al. Mutant fibrinogen cleared from the ER via ERAD and autophagy: an explanation for liver disease. Am J Pathol 2006; 168: 1299-1308.