Heritable severe combined anemia and thrombocytopenia in the mouse:
description of the disease and successful therapy
LL Peters, EC McFarland-Starr, BG Wood and JE Barker
Jackson Laboratory, Bar Harbor, ME 04609-0800.
A new autosomal recessive mouse mutation, scat (severe combined anemia and
thrombocytopenia), causes intermittent episodes of severe bleeding in the
homozygote. At birth, affected mice are pale with intradermal petechiae and
bruises on exposed surfaces. Central nervous system (CNS) bleeding occurs
in 22% of the mice. Gastrointestinal (GI) hemorrhaging and splenomegaly are
noted in moribund mice at autopsy. Of the 291 mice studied, 113 mice
survived the initial crisis and entered a spontaneous remission period
lasting from day 16 to day 27. A second crisis period ensued, and all but
22 mice died by 45 days. Mice in crisis show significantly decreased
platelets, erythrocytes, and leukocytes and increased reticulocytes when
compared to normal littermates. During remission all parameters are
significantly improved or revert to normal values. Neither splenomegaly nor
internal bleeding are observed during remission. A platelet-specific
antibody is present in the plasma of mutant mice during crisis. The
symptoms (severe bleeding, anemia, low- platelet counts) and
platelet-specific antibody production are transferred to lethally
irradiated normal mice through spleen cell transplantation. Splenectomy of
mice in remission significantly increases survival. Exploitation of the
features common to both scat/scat mice and patients with some forms of
autoimmune thrombocytopenic purpura will undoubtedly prove useful in
defining common pathways of disease development and in testing potential
therapeutic measures.
Volume 76,
Issue 4,
pp. 745-754,
08/15/1990
Copyright © 1990 by The American Society of Hematology
