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Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia

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Author(s): Göksel Leblebisatan | Ali Bay | Noriko Mitsuiki | Osamu Ohara | Kenichi Honma | Kohsuke İmai | Shigeaki Nonoyama

Journal: Turkish Journal of Hematology
ISSN 1300-7777

Volume: 28;
Issue: 02;
Start page: 139;
Date: 2011;
Original page

Keywords: X-linked thrombocytopenia | Wiskott-Aldrich syndrome | WASP gene

ABSTRACT
Wiskott-Aldrich syndrome (WAS) is a clinical condition characterized by thrombocytopenia, eczema, and life-threatening infections. In some cases autoimmunity-related problems and even malignancy might be seen; however, some patients have milder clinical manifestations due to mutations in the same gene family, such as in X-linked thrombocytopenia (XLT), which is generally not associated with serious symptoms of disease, except for thrombocytopenia. Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met). To the best of our knowledge this mutation has not been previously reported in a Turkish patient with XLT.
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