期刊
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
卷 30, 期 9, 页码 708-711出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0b013e31817541cd
关键词
von Willebrand disease; type 2B; megakaryocyte; platelet clumps; pseudothrombocytopenia
资金
- NHLBI NIH HHS [P01 HL081588, R01 HL112614] Funding Source: Medline
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL112614, P01HL081588] Funding Source: NIH RePORTER
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.
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