Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.
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.
Department of Pediatric Hematology, Gaziantep Children's Hospital, Gaziantep, Turkey Phone: +90 342 341 01 52 E-mail: gokselleb@yahoo.com.
Göksel
G
Leblebisatan
Ali
A
Bay
Noriko
N
Mitsuiki
Osamu
O
Ohara
Kenichi
K
Honma
Kohsuke
K
İmai
Shigeaki
S
Nonoyama