Sideroblastic 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:

Diagnostic Study of Choice

• Bone marrow aspiration and biopsy is the gold standard test for the diagnosis of sideroblastic anemia.
• 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

(prussian ble stain ,Image showing erythroblast with iron deposits source:Paulo Henrique Orlandi Mourao [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) or GFDL (http://www.gnu.org/copyleft/fdl.html), via Wikimedia Commons, from Wikimedia Commons]

• 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

• These iron deposits are clustered around mitochondria nucleus

Sequence of Diagnostic Studies

The [name of investigation] must be performed when:

• The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
• A positive [test] is detected in the patient, to confirm the diagnosis.

OR

The various investigations must be performed in the following order:

• [Initial investigation]
• [2nd investigation]

Name of Diagnostic Criteria

It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.

[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].

OR

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

[Disease name] may be diagnosed at any time if one or more of the following criteria are met:

• Criteria 1
• Criteria 2
• Criteria 3

OR

IF there are clear, established diagnostic criteria

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

IF there are no established diagnostic criteria

There are no established criteria for the diagnosis of [disease name].