A 6th novel mutation reported to cause PT-VWD

Jan 31st 2014. A new non- previously reported mutation within VWF binding region of GP1BA  gene is now reported in a patient diagnosed with PT-VWD in Argentina. The patient had severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA at 0.3 and 0.4 mg/mL, VWF:RCo to VWF:Ag  ratio < 0.2, normal VWF propeptide/VWF:Ag ratio, and RIPA mixing tests and cryoprecipitate challenge all positive for PT-VWD. Published in Seminar Thrombosis and Haemostasis Jan 2014 http://www.ncbi.nlm.nih.gov/pubmed/24474090