Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 101-122 |
| Number of pages | 22 |
| Journal | Blood Reviews |
| Volume | 24 |
| Issue number | 3 |
| DOIs | |
| State | Published - May 2010 |
| Externally published | Yes |
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Keywords
- Aplastic anemia
- Diamond-Blackfan anemia
- Dyskeratosis congenita
- Fanconi
- Inherited bone marrow failure syndromes
- Shwachman-Diamond syndrome
ASJC Scopus subject areas
- Hematology
- Oncology
Cite this
Pathophysiology and management of inherited bone marrow failure syndromes. / Shimamura, Akiko; Alter, Blanche P.
In: Blood Reviews, Vol. 24, No. 3, 05.2010, p. 101-122.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Pathophysiology and management of inherited bone marrow failure syndromes
AU - Shimamura, Akiko
AU - Alter, Blanche P.
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Aplastic anemia
KW - Diamond-Blackfan anemia
KW - Dyskeratosis congenita
KW - Fanconi
KW - Inherited bone marrow failure syndromes
KW - Shwachman-Diamond syndrome
UR - http://www.scopus.com/inward/record.url?scp=77952674566&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77952674566&partnerID=8YFLogxK
U2 - 10.1016/j.blre.2010.03.002
DO - 10.1016/j.blre.2010.03.002
M3 - Article
C2 - 20417588
AN - SCOPUS:77952674566
VL - 24
SP - 101
EP - 122
JO - Blood Reviews
JF - Blood Reviews
SN - 0268-960X
IS - 3
ER -