V

 

von Willibrand hastalığı/sendromu

Kalıtsal - AD/AR

3 fenotip

Pıhtılaşma sorunları

Trombosit işlevsizliği

Trombositopeni (2B tipinde)

Plazma VIII. faktör eksikliği (2N tipinde)

Burun kanamaları

Dişeti kanamaları

GİS kanamaları

Aşırı mens kanamaları

Deride purpuralar

Deride peteşiler

 

  • Sadler JE, Budde U, Eikenboom JCJ, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. Journal of Thrombosis & Haemostasis, 4: 2103-2114, 2006

  • Lillicrap D. Genotype/phenotype association in von Willebrand disease: is the glass half full or empty? Journal of Thrombosis & Haemostasis,  7 (suppl. 1): 65-70, 2009

  • Riddell, AF, Gomez K, Millar CM, et al. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. Blood, 114: 3489-3496, 2009

  • Goodeve, A. C. The genetic basis of von Willebrand disease. Blood Reviews, 24: 123-134, 2010