Journal
ANNALS OF MEDICINE
Volume 46, Issue 6, Pages 353-363Publisher
TAYLOR & FRANCIS LTD
DOI: 10.3109/07853890.2014.915579
Keywords
Diamond-Blackfan anemia; aplastic anemia; congenital neutropenia; dyskeratosis congenita; Fanconi anemia; myelodysplastic syndromes; Shwachman-Diamond syndrome; thrombocytopenia absent radii syndrome
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Funding
- NIH [CA105312, DK084188]
- Buck Family Endowed Chair in Hematology at the Children's Hospital of Philadelphia
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The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.
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