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Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes
Author(s) -
DeZern Amy E.,
Symons Heather J.,
Resar Linda S.,
Borowitz Michael J.,
Armanios Mary Y.,
Brodsky Robert A.
Publication year - 2014
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12299
Subject(s) - paroxysmal nocturnal hemoglobinuria , bone marrow failure , medicine , aplastic anemia , bone marrow , hemoglobinuria , hematology , clone (java method) , anemia , fanconi anemia , bone marrow diseases , intensive care medicine , pediatrics , oncology , haematopoiesis , stem cell , biology , dna , biochemistry , gene , dna repair , genetics
Background Inherited bone marrow failure syndromes ( IBMFS ) and acquired aplastic anemia ( AA ) are life‐threatening marrow failure disorders. These entities can be difficult to distinguish because they present similarly. Correct diagnosis is imperative for proper therapy. Design and methods This is a retrospective, single‐center study of patients <40 yr of age, evaluated for bone marrow failure, and assayed for the presence of a PNH clone in the pediatric or adult hematology/oncology clinics from 2001 to present. Patients were also evaluated for IBMFS . Results We present results from 156 patients with marrow failure, 20 of whom have IBMFS . None of the IBMSF patients had paroxysmal nocturnal hemoglobinuria ( PNH ) clones. Conclusions Although further studies are needed, our results suggest that the detection of a PNH clone can be a useful diagnostic tool to exclude the diagnosis of IBMFS and focus the work‐up and treatment on an acquired form of marrow failure.