A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.
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ABSTRACT:
SUBMITTER: Alsahafi IK
PROVIDER: S-EPMC5889233 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
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A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.
Alsahafi Imtinan K IK Al-Harbi Ibrahim I Aldor Shahad M SM Albarakati Bilqis A BA Alahmadi Ghaida B GB
Clinical case reports 20180227 4
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. ...[more]
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