Combined hemophilia A and type 2N von Willebrand's disease: Defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor

Haematologica

Volumn 86, Issue 10, 2001, Pages 1110-1111

  Casonato, A ^a   Pontara, E ^a   Sartorello, F ^a   Gemmati, D ^a   Cattini, M G ^a   Girolomi, A ^a  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Hemophilia A; Type 2N vWD; Von Willebrand factor; Von Willebrand's disease

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ARTICLE; BINDING AFFINITY; BLEEDING DISORDER; COMORBIDITY; DNA SEQUENCE; DRUG BLOOD LEVEL; GENE LOCATION; HEMOPHILIA A; HEMOSTASIS; HETEROZYGOSITY; HUMAN; POINT MUTATION; VON WILLEBRAND DISEASE;

FACTOR VIII; FAMILY HEALTH; FEMALE; HEMOPHILIA A; HUMANS; MALE; PEDIGREE; PROTEIN BINDING; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0034764298     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Von Willebrand factor and von Willebrand disease
2. A major factor VIII binding domain resides within the aminoterminal 272 amino acid residues of von Willebrand factor
3. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction
4. Evidence for 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
5. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: Significance and practical implications
6. Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene