Sideroblastic anemia diagnostic study of choice

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.

Bone marrow aspiration and biopsy is the gold standard test for the diagnosis of sideroblastic anemia. Light microscopy, Prussian blue staining and electron microscopy are performed on bone marrow biopsy samples. The bone marrow aspirate will show erythroid hyperplasia and pale red blood cell precursors. Prussian blue staining of bone marrow aspirate reveals iron-positive granules surrounding the nucleus of the erythroblast in ring form.

• Bone marrow aspiration and biopsy is the gold standard test for the diagnosis of sideroblastic anemia.^[1]
• Light microscopy, Prussian blue staining and electron microscopy are performed on bone marrow biopsy samples.

The following finding on performing the bone marrow biopsy is confirmatory for sideroblastic anemia.

• Normoblastic erythroid hyperplasia
• RBC precursors with pale cytoplasm
• Dysplastc changes (in MDS disorders)

Prussian blue staining of bone marrow aspirate reveals:

• Red cell precursors with numerous iron-positive granules surrounding the nucleus.
• In most cases these iron deposits form a complete ring around the nucleus.

• The electron microscopy of an erythroblast shows iron laden mitochondria^[2]

• Insoluble iron complexes are clustered around mitochondria nucleus

• • CBC
  • Reticulocyte count
  • Peripheral blood smear
  • Iron studies (serum iron, serum ferritin, and transferrin saturation)
  • Bone marrow examination
  • Genetic testing
    • Genetic testing is well considered in all patients with congenital sideroblastic anemias
    • A gene (or genes) is selected for analysis that is consistent with the patient’s phenotype
    • Genetic testing is the most determining way to establish the exact diagnosis and to identify the mutation
    • Genetic testing is done by DNA sequence analysis
    • The leukocytes are taken from peripheral blood
    • This testing is useful for management, genetic counseling and testing of first-degree relatives

Sideroblastic anemia may be diagnosed at any time if one or more of the following criteria are met:

• Microcytic hypochromic anemia
• Ring sideroblasts

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