Abstract | 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.
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Authors | Amy E DeZern, Heather J Symons, Linda S Resar, Michael J Borowitz, Mary Y Armanios, Robert A Brodsky |
Journal | European journal of haematology
(Eur J Haematol)
Vol. 92
Issue 6
Pg. 467-70
(Jun 2014)
ISSN: 1600-0609 [Electronic] England |
PMID | 24612308
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
Topics |
- Adolescent
- Adult
- Age Factors
- Anemia, Aplastic
- Bone Marrow
(pathology)
- Bone Marrow Diseases
- Bone Marrow Failure Disorders
- Child
- Child, Preschool
- Clonal Evolution
- Diagnosis, Differential
- Female
- Hemoglobinuria, Paroxysmal
(diagnosis, genetics, pathology)
- Humans
- Infant
- Infant, Newborn
- Male
- Retrospective Studies
- Young Adult
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