Journal
BLOOD REVIEWS
Volume 24, Issue 3, Pages 101-122Publisher
CHURCHILL LIVINGSTONE
DOI: 10.1016/j.blre.2010.03.002
Keywords
Aplastic anemia; Fanconi; Dyskeratosis congenita; Diamond-Blackfan anemia; Shwachman-Diamond syndrome; Inherited bone marrow failure syndromes
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Funding
- National Institutes of Health
- National Cancer Institute
- National Heart Lung and Blood Institute of the National Institutes of Health
- NATIONAL CANCER INSTITUTE [ZIACP010144] Funding Source: NIH RePORTER
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL079582] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [R24AI049393] Funding Source: NIH RePORTER
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The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed. (C) 2010 Elsevier Ltd. All rights reserved.
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