A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report

We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifi...

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Detalles Bibliográficos
Autores principales: Alsahafi, Imtinan K., Al‐Harbi, Ibrahim, Aldor, Shahad M., Albarakati, Bilqis A., Alahmadi, Ghaida B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889233/
https://www.ncbi.nlm.nih.gov/pubmed/29636940
http://dx.doi.org/10.1002/ccr3.1427
Descripción
Sumario:We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifibrinolytics are the mainstay of therapy.

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