PMID- 12930321
OWN - NLM
STAT- MEDLINE
DCOM- 20031016
LR  - 20190910
IS  - 0902-4441 (Print)
IS  - 0902-4441 (Linking)
VI  - 71
IP  - 3
DP  - 2003 Sep
TI  - A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild 
      anemia, and neutropenia cured by bone marrow transplantation.
PG  - 196-203
AB  - 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.
FAU - Tamary, H
AU  - Tamary H
AD  - Pediatric Hematology-Oncology Center and Imaging Department, Schneider Children's 
      Medical Center of Israel, Petah Tiqva, Israel. htamary@post.tau.ac.il
FAU - Yaniv, I
AU  - Yaniv I
FAU - Stein, J
AU  - Stein J
FAU - Dgany, O
AU  - Dgany O
FAU - Shalev, Z
AU  - Shalev Z
FAU - Shechter, T
AU  - Shechter T
FAU - Resnitzky, P
AU  - Resnitzky P
FAU - Shaft, D
AU  - Shaft D
FAU - Zoldan, M
AU  - Zoldan M
FAU - Kornreich, L
AU  - Kornreich L
FAU - Levy, R
AU  - Levy R
FAU - Cohen, A
AU  - Cohen A
FAU - Moser, R A
AU  - Moser RA
FAU - Kapelushnik, J
AU  - Kapelushnik J
FAU - Shalev, H
AU  - Shalev H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Haematol
JT  - European journal of haematology
JID - 8703985
SB  - IM
MH  - Anemia/*genetics/therapy
MH  - Arabs
MH  - Blood Platelets/ultrastructure
MH  - *Bone Marrow Transplantation
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Erythrocytes/pathology
MH  - Erythropoiesis
MH  - Female
MH  - Hematopoiesis
MH  - Humans
MH  - Infant
MH  - Microscopy, Electron
MH  - Neutropenia/*genetics/therapy
MH  - Neutrophils/pathology
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Thrombocytopenia/blood/*genetics/therapy
MH  - Thrombopoiesis/*genetics
EDAT- 2003/08/22 05:00
MHDA- 2003/10/17 05:00
CRDT- 2003/08/22 05:00
PHST- 2003/08/22 05:00 [pubmed]
PHST- 2003/10/17 05:00 [medline]
PHST- 2003/08/22 05:00 [entrez]
AID - 126 [pii]
AID - 10.1034/j.1600-0609.2003.00126.x [doi]
PST - ppublish
SO  - Eur J Haematol. 2003 Sep;71(3):196-203. doi: 10.1034/j.1600-0609.2003.00126.x.