A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation

Hannah Tamary*, I. Yaniv, J. Stein, O. Dgany, Z. Shalev, T. Shechter, P. Resnitzky, D. Shaft, M. Zoldan, L. Kornreich, R. Levy, A. Cohen, R. A. Moser, J. Kapelushnik, H. Shalev

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objectives: Familial thrombocytopenia is a relatively rare and heterogeneous group of clinical and genetic syndromes of unknown etiology. Recently, mutations in a few hematopoietic transcription factors were implicated in dysmegakaryopoiesis with and without dyserythropoietic anemia. The aim of the present study was to describe the clinical and hematologic picture of members of a Bedouin family with severe congenital thrombocytopenia associated with neutropenia and anemia and to determine the possible involvement of hematopoietic transcription factor genes in their disease. Patients and methods: Four members of a Bedouin family presented with severe bleeding tendency, including intracranial hemorrhage in three. Three of the four were successfully treated with allogenic human leukocyte antigen (HLA)-matched bone marrow transplants. Measurements of serum erythropoietin and thrombopoietin levels, bone marrow electron microscopy, and megakaryocytic colony were grown for each patient in addition to DNA amplification and single-strand conformation polymorphism of each exon of the NF-E2, Fli-1, FOG-1, and Gfi-1b in genes. Results: Bone marrow studies revealed dysmegakaryopoiesis and mild dyserythropoiesis. A low number of bone marrow megakaryocyte colony-forming units was found, as well as a slightly elevated serum thrombopoietin level. No mutation was identified in any of the transcription factor genes examined. Conclusions: A unique autosomal recessive bone marrow disorder with prominent involvement of megakaryocytes is described. Defects were not identified in transcription factors affecting the common myeloid progenitor.

Original languageEnglish
Pages (from-to)196-203
Number of pages8
JournalEuropean Journal of Haematology
Issue number3
StatePublished - 1 Sep 2003


  • Bone marrow transplantation
  • Congenital thrombocytopenia
  • Dysmegakaryopoiesis
  • Electron microscopy
  • Intracranial hemorrhage


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