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- Title
A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis.
- Authors
Okoli, S.; Madan, B.; Mwirigi, A.; Moore, G.; Drew, A.; Mitchell, M. J.; Cutler, J. A.
- Abstract
The article presents a case study of a 21-year-old female patient whose non-classical phenotypic and genotypic laboratory findings complicate the diagnosis of Bernard-Soulier syndrome. She was presented with severe acute abdominal pain, haematuria and significant gastrointestinal bleeding requiring blood transfusion with normal screens for standard coagulation and von Willebrand factor. The case illustrates the importance of considering the inherited causes of thrombocytopenia.
- Subjects
HEMATURIA; BLOOD coagulation disorders; HEMORRHAGIC diseases; VON Willebrand disease; THROMBOCYTOPENIA; GENETICS; PATIENTS
- Publication
Haemophilia, 2015, Vol 21, Issue 6, pe510
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.12777