We describe a family in which hemophilia A and von Willebrand’s disease (VWD) were simultaneously present. von Willebrand’s disease and hemophilia A are the most common inherited bleeding disorders, having factor VIII (FVIII) deficiency in common, albeit of different origin. In hemophilia A, the FVIII defect is associated with abnormalities in the FVIII gene, with an X-linked pattern of transmission, whereas in VWD the deficiency is related to an abnormality in von Willebrand factor (VWF), encoded by a gene located in chromosome 12. VWF carries FVIII and its reduction/absence reduces FVIII plasma concentration. Type 2N is a VWD variant characterized by a defect in the FVIII binding function of VWF, (with reduced FVIII but normal VWF levels. It may be misdiagnosed as hemophilia A.
Combined hemophilia A and type 2 von Willebrand's disease: defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor.
GEMMATI, Donato;
2001
Abstract
We describe a family in which hemophilia A and von Willebrand’s disease (VWD) were simultaneously present. von Willebrand’s disease and hemophilia A are the most common inherited bleeding disorders, having factor VIII (FVIII) deficiency in common, albeit of different origin. In hemophilia A, the FVIII defect is associated with abnormalities in the FVIII gene, with an X-linked pattern of transmission, whereas in VWD the deficiency is related to an abnormality in von Willebrand factor (VWF), encoded by a gene located in chromosome 12. VWF carries FVIII and its reduction/absence reduces FVIII plasma concentration. Type 2N is a VWD variant characterized by a defect in the FVIII binding function of VWF, (with reduced FVIII but normal VWF levels. It may be misdiagnosed as hemophilia A.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
