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X‐linked thrombocytopenia in a girl
Author(s) -
Inoue Hirokazu,
Kurosawa Hidemitsu,
oyama Shigeaki,
Imai Kohsuke,
Kumazaki Hisami,
Matsunaga Takayuki,
Sato Yuya,
Sugita Kenichi,
Eguchi Mitsuoki
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03740.x
Subject(s) - girl , wiskott–aldrich syndrome , x chromosome , medicine , gene , chromosome , pediatrics , immunology , genetics , biology
Summary. 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.