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Updated: Jan 4, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Gaucher disease, myelodysplastic syndrome and ICUS
Rosa Ruchlemer1, Moshe Mittelman2, Ari Zimran3
1Hematology Department, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Abstract:
Gaucher disease is an inherited lysosomal storage disease commonly associated with hepatosplenomegaly and cytopenias. Progressive cytopenias may be interpreted as an indication of advanced disease and suggest the need to start Gaucher disease specific treatment. As bone marrow evaluation is not routinely performed in Gaucher disease, other causes of cytopenias such as myelodysplastic syndrome a stem cell disorder may be missed. Six patients are described who suffered simultaneously from Gaucher disease and myelodysplastic syndrome, with a discussion of the diagnostic challenges.
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