Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2009:329-37.
doi: 10.1182/asheducation-2009.1.329.

Clinical approach to marrow failure

Affiliations
Review

Clinical approach to marrow failure

Akiko Shimamura. Hematology Am Soc Hematol Educ Program. 2009.

Abstract

The treatment and medical management of aplastic anemia fundamentally differ between patients with inherited versus acquired marrow failure; however, the diagnosis of an inherited bone marrow failure syndrome is frequently obscure. Recent exciting advances in our understanding of the molecular pathophysiology of the inherited bone marrow failure syndromes have resulted in a profusion of new tests to aid in diagnosis. This in turn has raised questions regarding the appropriate choice of testing for the patient presenting with aplastic anemia. Important clues to the diagnosis of an inherited marrow failure syndrome may be gleaned from careful attention to the clinical history, physical exam, and laboratory workup.

PubMed Disclaimer

Conflict of interest statement

Conflict-of-interest disclosure: The author declares no competing financial interests.

Figures

Figure 1.
Figure 1.. Summary of molecular pathways in the inherited marrow failure syndromes.
Figure 2.
Figure 2.. Approach to the patient with marrow failure.
A general outline of the evaluation of the patient with marrow failure is diagramed. See text for specific workup for each IBMFS as directed by history and exam.

References

    1. Myers KC, Davies SM. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children. Biol Blood Marrow Transplant. 2009;15:279–292. - PubMed
    1. Rosenberg PS, Socie G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood. 2005;105:67–73. - PubMed
    1. Green AM, Kupfer GM. Fanconi anemia. Hematol Oncol Clin North Am. 2009;23:193–214. - PMC - PubMed
    1. Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am. 2009;23:215–231. - PMC - PubMed
    1. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110:768–779. - PubMed

MeSH terms