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X-linked thrombocytopenia in a girl |
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| Authors: | Inoue Hirokazu Kurosawa Hidemitsu Nonoyama Shigeaki Imai Kohsuke Kumazaki Hisami Matsunaga Takayuki Sato Yuya Sugita Kenichi Eguchi Mitsuoki |
| Affiliation: | Division of Haematology, Department of Paediatrics, Dokkyo University School of Medicine, Tochigi, Japan. |
| Abstract: | We report X-linked thrombocytopenia (XLT) in a 6-year-old girl with petechiae and thrombocytopenia from the age of 3 months. Her 2-year-old brother was also diagnosed with XLT. The Wiskott-Aldrich syndrome protein (WASP) gene was detected as a replacement of +5th G to Aon intron 6 using sequence analysis, and the WASP expression levels in this patient were one-third those of a healthy control. The X-inactivation analysis of the patients lymphocytes showed a random pattern of X-chromosome inactivation. To our knowledge, this is the first confirmed report of XLT in a female. |
| Keywords: | X-linked thrombocytopenia Wiskott–Aldrich syndrome Wiskott–Aldrich syndrome protein X-chromosome inactivation human androgen receptor gene |
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