Editorial
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World J Hematol. Nov 6, 2013; 2(4): 99-108
Published online Nov 6, 2013. doi: 10.5315/wjh.v2.i4.99
Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene
Alain Gadisseur, Zwi Berneman, Wilfried Schroyens, Jan Jacques Michiels
Alain Gadisseur, Hemostasis, Unit, Department of Hematology, University Hospital Antwerp, Wilrijkstraat 10, B-2650, Edegem, Belgium
Zwi Berneman, Wilfried Schroyens, Jan Jacques Michiels, Department of Hematology, University Hospital Antwerp, Wilrijkstraat 10, B-2650, Edegem, Belgium
Jan Jacques Michiels, Goodheart Institute and Foundation, Bloodcoagulation and Vascular Medicine Center, Erasmus Tower, 3069 AT Rotterdam, The Netherlands
Author contributions: Michiels JJ, Berneman Z and Schroyens W analysed the clinical features of congenital severe type 1 and 3 VWD and obligate heterozygous carriers; Gadisseur A and Michiels JJ analysed the molecular characteristics of severe type 1 and 3 VWD patients and wrote the manuscript.
Correspondence to: Jan Jacques Michiels, Professor, Goodheart Institute and Foundation, Bloodcoagulation and Vascular Medicine Center, Erasmus Tower, Veenmos 13, 3069 AT Rotterdam, The Netherlands. goodheartcenter@upcmail.nl
Telephone: +32-3-8213915 Fax: +32-3-8214286
Received: March 4, 2013
Revised: July 30, 2013
Accepted: August 4, 2013
Published online: November 6, 2013
Core Tip

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.