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Wiskott Aldrich syndrome presenting as congenital thrombocytopenia

S E Lawson1, L Thompson, M D Williams

  • 1Birmingham Children's Hospital, Birmingham, and King's Healthcare NHS Trust, London. isaac.lawson@btinternet.com

The application of molecular biology to haematology has provided the opportunity to revisit previous diagnoses, many of which can now be redefined. This report is on a local family previously diagnosed and published as having X-linked thrombocytopenia in 1974, and shows how the application of molecular screening has confirmed the true diagnosis of Wiskott Aldrich syndrome.

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