Haemophilia in women can be due to an inherited heterozygous variant on a single X chromosome. Lyonization, the inactivation of one of the X chromosomes early in embryogenesis, is in principle random but...
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The recent publication of international consensus guidelines on the diagnosis and management of von Willebrand Disease (VWD) has highlighted many of the challenges in the diagnosis and management of this...
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There is a growing research interest in women with inherited bleeding disorders. As proof of this, the guideline for women with inherited bleeding disorders were published recently. Among women with inherited...
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Von Willebrand disease (VWD) is a common inherited bleeding disorder, caused by deficiency or dysfunction of the platelet adhesive protein von Willebrand factor (VWF), that demonstrates clinical and laboratory heterogeneity. Accurate VWD diagnosis and subtyping is essential to determine proper treatment and to help predict bleeding phenotype, but this can be challenging due to issues such as variable clinical penetrance, the acute phase characteristics...
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