Publications by authors named "Andrea M Guilliatt"
Article Synopsis
- von Willebrand disease (VWD) caused by the R1205H mutation presents specific and consistent clinical and lab features, mainly affecting individuals diagnosed with moderate to severe type 1 VWD.
- Researchers investigated seven families with this mutation and found that heterozygosity for R1205H was the most common genetic defect leading to type 1 VWD at their center.
- A notable finding was that affected individuals often had a severe lab phenotype and a milder bleeding history than anticipated, alongside the absence of abnormal ultralarge high molecular weight multimers in their plasma, and the R1205H mutation likely arises independently, suggesting it doesn't stem from a single genetic source.
Pseudo-von Willebrand disease (p-VWD) and type 2B von Willebrand disease (VWD) have similar phenotypic parameters and clinical symptoms, but different aetiologies. Fourteen individuals from five families with a historical diagnosis of type 2B VWD but with no mutation in the von Willebrand factor gene were re-investigated for the possibility of p-VWD, using platelet aggregation in the presence of cryoprecipitate. p-VWD was confirmed by targeted DNA sequencing of the glycoprotein Ibalpha gene, identifying a heterozygous Glycine 233 Valine substitution.
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