Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: communication from the SSC of the ISTH

K Megy, K Downes, I Simeoni, L Bury… - Journal of Thrombosis …, 2019 - jthjournal.org
Inherited bleeding, thrombotic, and platelet disorders (BTPD) are a heterogeneous set of
diseases. The most common inherited bleeding disorders are von Willebrand disease
(VWD) and hemophilia, although all other BTPDs are globally very rare, with mostly an
unknown prevalence. Over the past five decades, the genetic basis of some of these
disorders has been identified. Most of the genes harboring variants responsible for BTPD
have been identified through linkage studies across informative pedigrees or using …