What is it about?
Given their abnormal FVIII:C and bleeding profiles of patients carrying the p.Arg816Trp in a heterozygous state, and in view of the absence of genotypic variants in the F8 gene that could explain their very low FVIII:C, the p.Arg816Trp appears to show a dominant inheritance.
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Why is it important?
Medic staff should be aware of the possibility of dominant inheritance in patients carrying the p.Arg816Trp responsible for the VWD2N variant.
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This page is a summary of: Type 2N von Willebrand disease: Is it always a recessive trait?, Thrombosis Research, February 2021, Elsevier,
DOI: 10.1016/j.thromres.2020.11.029.
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