Distinguishing constitutional from acquired bone marrow failure in the hematology clinic

Emma M Groarke; Neal S Young; Katherine R Calvo

doi:10.1016/j.beha.2021.101275

Distinguishing constitutional from acquired bone marrow failure in the hematology clinic

Best Pract Res Clin Haematol. 2021 Jun;34(2):101275. doi: 10.1016/j.beha.2021.101275. Epub 2021 Jun 2.

Authors

Emma M Groarke¹, Neal S Young², Katherine R Calvo³

Affiliations

¹ Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Clinical Center, Building 10, 3-E, room 3-5240, 10 Center Drive, Bethesda, MD, 20892, United States. Electronic address: emma.groarke@nih.gov.
² Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Clinical Center, Building 10, 3-E, room 3-5240, 10 Center Drive, Bethesda, MD, 20892, United States. Electronic address: youngns@nhlbi.nih.gov.
³ Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Clinical Center, Building 10, Department of Laboratory Medicine, 10 Center Drive, Bethesda, MD, 20892, United States. Electronic address: calvok@cc.nih.gov.

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.

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

Published by Elsevier Ltd.

Publication types

Research Support, N.I.H., Intramural
Review

MeSH terms

Anemia, Aplastic* / diagnosis
Anemia, Aplastic* / genetics
Bone Marrow
Bone Marrow Diseases* / diagnosis
Bone Marrow Diseases* / genetics
Bone Marrow Failure Disorders
Genetic Testing
Hematology*
Humans

Grants and funding

Z99 HL999999/ImNIH/Intramural NIH HHS/United States