Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. J Pediatr Hematol Oncol 2008 Sep;30(9):708-11
Date
09/09/2008Pubmed ID
18776767Pubmed Central ID
PMC5592795DOI
10.1097/MPH.0b013e31817541cdScopus ID
2-s2.0-65349161369 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
We report a child with thrombocytopenia since birth, circulating platelet agglutinates, and a tendency to bleed. A bone marrow aspirate revealed large platelet clumps within the bone marrow and megakaryocyte nuclei surrounded by halos of clumped platelets. Laboratory evaluation revealed type 2B von Willebrand disease. Gene sequencing revealed a G to C mutation at base 3923 of the VWF gene. This mutation was previously described in a family with circulating platelet clumps and abnormal megakaryopoiesis with release of clumped platelets in culture. This same mutation was previously described in a family with circulating platelet aggregates and abnormalities of platelet release from megakaryocytes in vitro. Presence of megakaryocytes with halos of clumped platelets in our patient suggests that platelet agglutinate occurs in the bone marrow in some type 2B von Willebrand disease patients.
Author List
Slayton WB, Patel M, Sola-Visner M, Harris N, Rivers A, Montgomery RR, Friedman KDAuthors
Kenneth D. Friedman MD Professor in the Medicine department at Medical College of WisconsinRobert R. Montgomery MD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
AgglutinationBlood Platelets
Bone Marrow Examination
Child
Humans
Male
Megakaryocytes
Mutation
Thrombocytopenia
von Willebrand Diseases
von Willebrand Factor
