Published online Nov 6, 2013. doi: 10.5315/wjh.v2.i4.99
Revised: July 30, 2013
Accepted: August 4, 2013
Published online: November 6, 2013
Core tip: The novel lethal bleeding disorder described as “Hereditary Pseudohemophilia by von Willebrand (VW) in 1926 is caused by a homozygous nonsense mutation (one nucleotide deletion in exon 18) of the VW-factor gene consistent with autosomal recessive VW disease (VWD) type 3. Heterozygous carriers presented with VWD type 1 with variable penetrance of mild mucocutaneous bleeding manifestations. The present editorial reviews the clinical, laboratory and molecular features of severe recessive type 1 and 3 VWD and obligate heterozygous carriers of VWF nonsense and missense mutations.