Literature DB >> 34404527

Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.

Emma M Groarke1, Neal S Young2, Katherine R Calvo3.   

Abstract

Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results. Published by Elsevier Ltd.

Entities:  

Keywords:  Aplastic anemia; Bone marrow failure; Cancer; Constitutional bone marrow failure; IBMFS; Inherited bone marrow failure syndromes; Myelodysplastic syndrome; Predisposition syndromes

Mesh：

Year:  2021        PMID： 34404527      PMCID： PMC8374085          DOI： 10.1016/j.beha.2021.101275

Source DB:  PubMed          Journal:  Best Pract Res Clin Haematol        ISSN： 1521-6926            Impact factor:   3.670


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