VWD type 2N is characterised by the inability of VWF to
bind FVIII leading to accelerated clearance of unbound FVIII and
therefore disproportionate lower levels of FVIII:C.
Dear Dr Tavares,
VWD type 2 Normandy is solely defined by mutations in the VWF gene impairing the binding to FVIII. Therfore the alterations in the VWF protein do not impair the structure of VWF multimers nor the ability of VWF to aggregate platelets but causes an accelerated clearance of FVIII. Should the VWF:RCo to VWF:Ag ratio be low (
The type 2N VWD includes variants with decreased affinity labeled FVIII binding. The type 2N VWD is caused by homozygous or heterozygous VWF mutations affecting the binding capacity of FVIII (VWF: FVIIIB). Both alleles of VWF sometimes have mutations FVIII binding, but often has a mutation allele FVIII binding. Mutations in VWD type 2N are generally within the binding site of VWF to FVIII, which are among Ser764 and Arg1035 and covers the domain part of the domain Dc and D3. Some mutations in the C-terminal domain D3 in Arg1035 may also reduce binding to FVIII.
The level of FVIII decreases disproportionately in relation to VWF: the AG in VWD type 2N, and the diagnosis depends on measuring the affinity of VWF for FVIII (VWF: FVIIIB), solid phase immunoassay. Values VWF: FVIIIB are generally
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