Journal
EUROPEAN JOURNAL OF HAEMATOLOGY
Volume 92, Issue 6, Pages 467-470Publisher
WILEY-BLACKWELL
DOI: 10.1111/ejh.12299
Keywords
bone marrow failure; paroxysmal nocturnal hemoglobinuria; inherited marrow failure; pancytopenia; aplastic anemia
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Funding
- NIH [P30CA006973]
- Commonwealth Foundation
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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 <40yr 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.
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