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
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