Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aα chain truncation causing decreased plasma expression and impaired fibrin polymerisation

Stephen O. Brennan; Michael W. Mosesson; Robin Lowen; Christopher Frantz

doi:10.1160/TH05-11-0749

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2006; 96(01): 88-89
DOI: 10.1160/TH05-11-0749

Case Report

Schattauer GmbH

Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aα chain truncation causing decreased plasma expression and impaired fibrin polymerisation

Stephen O. Brennan

¹Canterbury Health Laboratories, Christchurch, New Zealand

,

Michael W. Mosesson

²Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, Wisconsin, USA

,

Robin Lowen

¹Canterbury Health Laboratories, Christchurch, New Zealand

,

Christopher Frantz

³A.I. duPont Hospital for Children, Wilmington, Delaware, USA

References
1 Mosesson MW. Hereditary Fibrinogen Abnormalities. In Williams Hematology. 7th Ed. McGraw-Hill; New York: 2005: 1909-27.
2 Mosesson MW. Fibrinogen and fibrin structure and functions. J Thromb Haemost 2005; 03: 1894-904.
3 Neerman-Arbez M, de Moerloose P, Bridel C. et al. Mutations in the fibrinogen A alpha gene account for the majority of cases of congenital afibrinogenemia. Blood 2000; 96: 149-52.
4 Hanss M, Biot F. A Database For Human Fibrinogen Variants. Ann NY Acad Sci 2001; 936: 89-90. http://www.geht.org/databaseang/fibrinogen
5 Ridgway HJ, Brennan SO, Faed J M. et al. Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br J Haematol 1997; 98: 632-9.
6 Lefebvre P, Velasco PT, Dear A. et al. Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AαVS4+1 G>T mutation and an AαGln328 truncation (fibrinogen Keokuk). Blood 2004; 103: 2571-6.
7 Koopman J, Haverkate F, Grimbergen J. et al. Fibrinogen Marburg:a homozygous case of dysfibrinogenemia, lacking amino acids Aα 461-610 (Lys461 AAA→Stop TAA). Blood 1992; 80: 1972-9.
8 Ridgway HJ, Brennan SO, Gibbons S. et al. Fibrinogen Lincoln: a new truncated α chain variant with delayed clotting. Br J Haematol 1996; 93: 177-84.
9 Homer VM, Mullin JL, Brennan SO. et al. Novel Aα chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerisation. J Throm Haemost 2003; 01: 1245-50.
10 Margaglione M, Vecchione G, Santacroce R. et al. Frameshift mutation in the human fibrinogen A-alpha chain gene (Aα(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo. Thromb Haemost 2001; 86: 1483-8.
11 Marchi R, Meyer M, Bosch N. et al. Biophysical characterization of fibrinogen Caracas I with an Aαchain truncation at Aα-466 Ser: identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen. Blood Coagul Fibrinolysis 2004; 15: 285-93.
12 Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-8.
13 Furlan M, Steinmann C, Jungo M. et al. A frameshift mutation in Exon V of the Aα-chain gene leading to truncated Aα-chains in the homozygous dysfibrinogen Milano III. J Biol Chem 1994; 269: 33129-34.
14 Mosesson MW, Siebenlist KR, Hainfeld JF. et al. The relationship between thefibrinogen D domain selfassociation/crosslinking site (γXL) and the fibrinogen Dusart abnormality (Aα R554C-albumin). J Clin Invest 1996; 97: 2342-50.
15 Tsurupa G, Medved L. Identification and characterization of novel tPA- and plasminogen-binding sites within fibrin(ogen) alpha C-domains. Biochemistry 2001; 40: 801-8.
16 DiOrio JP, Mosesson MW, Hernandez I. et al. Fibrinogen Marburg fibrin network structure. Microscopy Microanal 1999; (Suppl. 02) 1119-20.