Congenital Amegakaryocytic Thrombocytopenia: An Intrinsic Hematopoietic Stem Cell Defect

  title={Congenital Amegakaryocytic Thrombocytopenia: An Intrinsic Hematopoietic Stem Cell Defect},
  author={Melvin H. Freedman and Zeev E Estrov},
  journal={Journal of Pediatric Hematology/Oncology},
Serial studies of bone marrow (BM) hematopoiesis using clonogenic assays were performed in an infant with congenital amegakaryocytic thrombocytopenia. Initially, when the only hematological abnormality was isolated thrombocytopenia, the number of clonogenic BM hematopoietic progenitors was comparable to controls, including the number of megakaryocyte precursors. As the disease evolved into aplastic anemia over an 11-month period, the peripheral blood counts declined, and colony numbers from… 

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