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This book presents the latest scientific knowledge on inherited and acquired bone marrow failure syndromes, describing the advances in understanding of genetics and pathophysiology that have been achieved as a result of high-throughput DNA sequencing, RNA expression studies, and modern biochemistry techniques. The full range of relevant conditions is covered, including acquired aplastic anemia, Fanconi anemia, ribosomopathies, telomeropathies, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and congenital neutropenias and thrombocytopenias. In addition, it is explained how the study of these rare diseases has uncovered important new science and elucidated the pathophysiology of more common hematological and oncological diseases. A treatment-specific chapter describes options ranging from the conventional to the cutting edge. Bone Marrow Failure will be of value for both trainee and practicing hematologists and oncologists.


1. The Cellular and Molecular Mechanisms of Hematopoiesis

2. Acquired Aplastic Anemia
3. Pediatric Myelodysplastic Syndromes
4. Fanconi Anemia: A Pathway of Hematopoeisis and Cancer Predisposition
5. Ribosomopathies Through a Diamond Lens
6. Dyskeratosis Congenita and the Telomere Biology Disorders
7. Diamond Blackfan Anemia
8. Shwachman-Diamond Syndrome
9. Hematopoietic Cell Transplantation for the Treatment of Patients with Bone Marrow Failure Syndromes
10. Inherited Neutropenias and Their Insights into Cellular and Developmental Biology
11. Inherited Thrombocytopenias.


ISBN 978-3-030-09662-5
Article number 9783030096625
Media type Book
Copyright year 2019
Publisher Springer, Berlin
Length IX, 214 pages
Illustrations IX, 214 p. 19 illus., 12 illus. in color.
Language English