Aplastic anemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
Diagnostic Study of Choice
Study of choice
Bone marrow biopsy is the gold standard test for the diagnosis of aplastic anemia[1]
Diagnostic results
The following findings on performing bone marrow biopsy are confirmatory for aplastic anemia:
- Hypoplasia with <20% cellularity
- Normal maturation of all cell line
- Fat cells and stroma in bone marrow space
- Residual hematopoietic cells are morphologically normal
- Hematopoiesis is not megaloblastic
Sequence of Diagnostic Studies
Investigations must be performed in the following order:
- In adults with AA, these tests should be done to detect coexistent disorders, such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, or acute leukemia:
- Flow cytometry for assessment of cell surface CD59 on peripheral blood red blood cells or neutrophils.
- Cytogenetic and molecular testing of bone marrow
- In children with AA genetic testing should be performed to find out inherited genetic abnormalities.
- Some are Fanconi anemia, dyskeratosis congenita and short telomere syndromes
References
- ↑ Dezern AE, Brodsky RA (April 2011). "Clinical management of aplastic anemia". Expert Rev Hematol. 4 (2): 221–30. doi:10.1586/ehm.11.11. PMC 3138728. PMID 21495931.