| Literature DB >> 12199801 |
Hirokazu Inoue1, Hidemitsu Kurosawa, Shigeaki Nonoyama, Kohsuke Imai, Hisami Kumazaki, Takayuki Matsunaga, Yuya Sato, Kenichi Sugita, Mitsuoki Eguchi.
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.Entities:
Mesh：
Substances：
Year: 2002 PMID： 12199801 DOI： 10.1046/j.1365-2141.2002.03740.x
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998