Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion

Thromb Haemost. 2014 Apr 1;111(4):777-9. doi: 10.1160/TH13-06-0462. Epub 2013 Dec 12.

Authors

Florian Langer¹, Tobias Obser, Florian Oyen, Brigitte Spath, Katharina Holstein, Andreas Greinacher, James G White, Ulrich Budde, Carsten Bokemeyer, Reinhard Schneppenheim

Affiliation

¹ Florian Langer MD, II. Medizinische Klinik und Poliklinik, Hubertus Wald Tumorzentrum, Universitäres Cancer Center Hamburg (UCCH), Universitätsklinikum Eppendorf, Martinistr. 52, 20246 Hamburg, Germany, Tel.: +49 40 7410 52453, Fax: +49 40 7410 55193, E-mail: langer@uke.de.

PMID: 24337418
DOI: 10.1160/TH13-06-0462

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Blood Platelets / metabolism
Blood Platelets / pathology*
Female
Hemorrhage / genetics
Humans
Infant
Mutation / genetics
Pedigree
Platelet Aggregation / genetics
Platelet Glycoprotein GPIb-IX Complex / genetics
Platelet Glycoprotein GPIb-IX Complex / metabolism*
Pregnancy
Prospective Studies
Protein Binding / genetics
Protein Multimerization / genetics
Proteolysis
Secretory Pathway / genetics*
Secretory Vesicles / metabolism
Thrombocytopenia / genetics*
von Willebrand Disease, Type 2 / diagnosis
von Willebrand Disease, Type 2 / genetics*
von Willebrand Factor / administration & dosage
von Willebrand Factor / metabolism*

Substances

Platelet Glycoprotein GPIb-IX Complex
adhesion receptor
von Willebrand Factor