Hereditary X-linked thrombocytopenia maps to the same chromosomal region as
the Wiskott-Aldrich syndrome
M Donner, M Schwartz, KU Carlsson and L Holmberg
Department of Pediatrics, University Hospital, Lund, Sweden.
Hereditary X-linked thrombocytopenia occurs either as isolated
thrombocytopenia or as a part of the Wiskott-Aldrich syndrome (WAS). We
studied X-linked thrombocytopenia in a family with eight affected male
members, none of whom exhibited the increased susceptibility to infection
that occurs in WAS. We found a significant linkage between thrombocytopenia
and DXS 146, a marker on the proximal part of the short arm of the
X-chromosome. WAS has previously been mapped to the same chromosomal
region. The present findings indicate that X-linked thrombocytopenia and
WAS are closely related and may even be caused by different mutations of
the same gene. This view is supported by our findings of atopic symptoms
and minor deviations in immunologic variables among some of the affected
subjects.
Volume 72,
Issue 6,
pp. 1849-1853,
12/01/1988
Copyright © 1988 by The American Society of Hematology
