Haematologica, Vol 92, Issue 8, 1151-1152 doi:10.3324/haematol.11235
Copyright © 2007 by Ferrata Storti Foundation
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Disorders of Hemostasis

Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia

Ryan L. Davis*,, Michael W. Mosesson#, Bryce A. Kerlin@, Jason A. Canner@, Frederick B. Ruymann@, Stephen O. Brennan*,°

* Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
° Canterbury Health Laboratories, Canterbury Hospital, Christchurch, New Zealand
# The Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI, USA
@ The Ohio State University College of Medicine Department of Pediatrics and Children’s Hospital, Columbus, OH, USA

Correspondence: Ryan Davis, Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, P.O. Box 4345, Christchurch, New Zealand. Phone: international +64.33640552. Fax: international +64.33640545. E-mail: ryan.davis{at}chmeds.ac.nz

Fibrinogen is an essential component of the coagulation cascade and the acute phase response. The native 340 kDa molecule has a symmetrical trinodular structure composed of a central E-domain connected to outer D-domains by triple helical coiled-coils.1 Several mutations known to cause hypofibrinogenemia occur within the C-terminal gammaD-domain and have helped to elucidate the structurally and functionally important areas of this domain.2–5 Here we report the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and cosegregating with three genetic thrombophilia risk factors.