Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura; Blanche P. Alter

doi:10.1016/j.blre.2010.03.002

Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura, Blanche P. Alter

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1016/j.blre.2010.03.002
State	Published - May 2010
Externally published	Yes

Keywords

Aplastic anemia
Diamond-Blackfan anemia
Dyskeratosis congenita
Fanconi
Inherited bone marrow failure syndromes
Shwachman-Diamond syndrome

ASJC Scopus subject areas

Hematology
Oncology

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AU - Alter, Blanche P.

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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

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KW - Fanconi

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KW - Shwachman-Diamond syndrome

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Pathophysiology and management of inherited bone marrow failure syndromes

Abstract

Keywords

ASJC Scopus subject areas

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