Article
Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling.
British journal of haematology - 1 Nov 1990
Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A, Goudemand M
Abstract excerpt
A plasma von Willebrand factor (vWf) defect limited to its failure to bind factor VIII (FVIII) was previously characterized in a woman with FVIII deficiency and normal primary haemostasis. By using in vitro tests we found a similar pattern in three siblings of another family previously thought to...
Topics
- Child
- Child, Preschool
- Diagnostic Errors
- Factor VIII
- Female
- Genetic Counseling
- Genetic Variation
- Hemophilia A
- Hemorrhagic Disorders
- Heterozygote
- Humans
- Male
- Pedigree
- von Willebrand Factor