ISSN: 1300-7777 E-ISSN: 1308-5263
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia [Turk J Hematol]
Turk J Hematol. 2011; 28(2): 139-141 | DOI: 10.5152/tjh.2011.31  

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

Göksel Leblebisatan1, Ali Bay2, Noriko Mitsuiki3, Osamu Ohara3, Kenichi Honma4, Kohsuke İmai4, Shigeaki Nonoyama4
1Department Of Pediatric Hematology, Gaziantep Children’s Hospital, Gaziantep, Turkey
2Department Of Pediatric Hematology, Faculty Of Medicine, Gaziantep University, Gaziantep, Turkey
3Kazusa Na Research Institute, Japan
4National Defense Medical Collage, Japan

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.

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


X’e bağlı trombositopenili iki Türk kardeşte Wiskott Aldrich sendromu mutasyonu

Göksel Leblebisatan1, Ali Bay2, Noriko Mitsuiki3, Osamu Ohara3, Kenichi Honma4, Kohsuke İmai4, Shigeaki Nonoyama4
1Gaziantep Çocuk Hastanesi, Pediatrik Hematoloji Bölümü, Gaziantep
2Gaziantep Üniversitesi Tıp Fakültesi, Pediatrik Hematoloji Bölümü, Gaziantep
3Kazusa Dna Research Institute, Japan
4National Defense Medical Collage, Japan

Wiskott Aldrich Sendromu (WAS) trombositopeni, egzema ve hayatı tehdit edici enfeksiyonlar ile karakterize klinik durumdur. Bazı vakalarda otoimmünite ile ilgili problemler hatta malign hastalıklar da görülebilmektedir. Bunların yanında aynı gen ailesinden köken alan bazı mutasyonlarda daha hafif klinik seyir görülmektedir. X’e bağlı trombositopeni bunlardan biri olup genellikle trombositopeni dışındaki ciddi semptomları taşımaz. Burada kronik trombositopenisi olan iki erkek kardeş, WASP geninde bir missens mutasyona bağlı X’e bağlı trombositopeni tanısı almaları nedeniyle sunulmuştur. Bu mutasyon bildiğimiz kadarıyla X’e bağlı trombositopeni tanılı Türk hastalarda daha önce bildirilmemiştir.

Anahtar Kelimeler: X’e bağlı trombositopeni, Wiskott Aldrich sendromu, WASP geni


Göksel Leblebisatan, Ali Bay, Noriko Mitsuiki, Osamu Ohara, Kenichi Honma, Kohsuke İmai, Shigeaki Nonoyama. Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. Turk J Hematol. 2011; 28(2): 139-141

Corresponding Author: Göksel Leblebisatan, Türkiye


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