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

Bone marrow biopsy is the gold standard test for the diagnosis of aplastic anemia, These findings on performing bone marrow biopsy are confirmatory for aplastic anemiaHypoplasia with <20% cellularity, normal maturation of all cell line, fat cells and stroma in bone marrow space. Residual hematopoietic cells are morphologically normal and hematopoiesis is not megaloblastic.

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:

Sequence of Diagnostic Studies

Investigations must be performed in the following order:[2]

    • Flow cytometry for assessment of cell surface CD59 on peripheral blood red blood cells or neutrophils.
    • Cytogenetic and molecular testing of bone marrow
    • Hemoglobin electrophoresis and blood-group testing
    • Biochemical profile
    • Serology
    • Fluorescence-activated cell sorter (FACS) profiling
    • Fluorescent-labeled inactive toxin aerolysin (FLAER) testing
    • Diepoxybutane incubation
    • Histocompatibility testing

References

  1. 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.
  2. D'Andrea AD, Grompe M (January 2003). "The Fanconi anaemia/BRCA pathway". Nat. Rev. Cancer. 3 (1): 23–34. doi:10.1038/nrc970. PMID 12509764.

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