X-linked thrombocytopenia in a girl.
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.
Inoue
Hirokazu
H
Division of Haematology, Department of Paediatrics, Dokkyo University School of Medicine, Tochigi, Japan.
Kurosawa
Hidemitsu
H
Nonoyama
Shigeaki
S
Imai
Kohsuke
K
Kumazaki
Hisami
H
Matsunaga
Takayuki
T
Sato
Yuya
Y
Sugita
Kenichi
K
Eguchi
Mitsuoki
M
D002648:Child; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000235:genetics* / Q000276:immunology; D051316:Wiskott-Aldrich Syndrome Protein
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein