Sideroblastic anemia diagnostic study of choice: Difference between revisions
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** Bone marrow examination | ** Bone marrow examination | ||
** Genetic testing | ** 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:. | Sideroblastic anemia may be diagnosed at any time if one or more of the following criteria are met:. | ||
Revision as of 14:56, 9 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Diagnostic Study of Choice
- 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 is performed on bone marrow biopsy sample.
Diagnostic results
The following finding on performing the bone marrow biopsy is confirmatory for sideroblastic anemia.
Bone marrow aspirate smear
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- Normoblastic erythroid hyperplasia
- RBC precursors with pale cytoplasm
- Dysplastc changes ( in MDS disorders)
Prussian blue staining
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.
Electron microscopy
- The electron microscopy of an erythroblast shows iron laden mitochondria[2]
- Insoluble iron complexes are clustered around mitochondria nucleus
Sequence of Diagnostic Studies
The various investigations must be performed in the following order:
- 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
References
- ↑ Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.
- ↑ Bessho F, Ohnishi H, Tabuchi K, Kobayashi M, Hayashi Y (April 1999). "Significance of electron-dense deposits in the mitochondrial matrix of erythroid precursors in aplastic anaemia and myelodysplastic syndrome". Br. J. Haematol. 105 (1): 149–54. PMID 10233378.