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Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases
Author(s) -
Bożena Sokołowska,
Danuta Skomra,
Barbara Czartoryska,
Waldemar Tomczak,
Anna TylkiSzymańska,
Tomasz Gromek,
Anna Dmoszyńska
Publication year - 2011
Publication title -
folia histochemica et cytobiologica
Language(s) - English
Resource type - Journals
eISSN - 1897-5631
pISSN - 0239-8508
DOI - 10.5603/fhc.2011.0048
Subject(s) - cytopenia , hepatosplenomegaly , trephine , medicine , biopsy , bone marrow , disease , gaucher's disease , hematologist , pathology
The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations.

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