Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bβ58 (3404del A) associated with thrombotic stroke in infancy

Stephen O. Brennan; Michael W. Mosesson; Robin Lowen; R. Siebenlist; Alison Matsunaga

doi:10.1160/TH05-09-0609

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2006; 95(04): 738-739
DOI: 10.1160/TH05-09-0609

Case Report

Schattauer GmbH

Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bβ58 (3404del A) associated with thrombotic stroke in infancy

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

,

R. Siebenlist

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

,

Alison Matsunaga

³Children’s Hospital, Oakland, California, USA

References
1 Mosesson MW. Hereditary Fibrinogen Abnormalities. In: Williams Hematology. New York: McGraw-Hill; 2006: 1909-27.
2 Lack M, Keihani M, Elahi F. et al. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107: 204-6.
3 Ridgway H, Brennan SO, Faed J. et al. Fibrinogen Otago a new mutation causing α chain truncation and severe hypofibrinogemia. Brit J Haematol 1997; 98: 632-9.
4 Mosesson MW. Antithrombin I Inhibition of thrombin generation in plasma by fibrin formation. Thromb Haemost 2003; 89: 9-12.
5 Dear A, Daly J, Brennan SO. et al. An intronic mutation within FGB (IVS1+2076 a→g) is associated with afibrinogenemia and recurrent transient ischemic attacks. J Thromb Haemost 2006; 04: 471-2.
6 Maghzal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-38.
7 Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90.
8 Reese MG, Eeckman FH, Kulp D. et al. Improved splice site detection in genie. J Comp Biol 1997; 04: 311-23.
9 Standeven KF, Grant PJ, Carter AM. et al. Functional analysis of the fibrinogen Aα Thr312Ala polymorphism effects on fibrin structure and function. Circulation 2003; 107: 2326-30.
10 Carter AM, Catto AJ, Grant PJ. Association of the α-fibrinogen Thr312Ala polymorphism with post-stroke mortality in subjects with atrial fibrillation. Circulation 1999; 99: 2423-6.
11 Carter AM, Catto AJ, Kohler HP. et al. Fibrinogen Thr312Ala polymorphism and venous thromboembolism. Blood 2000; 96: 1177-9.