Laboratory Studies
The following studies are indicated in patients with suspected transient erythroblastopenia of childhood (TEC):
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Complete blood count (CBC)
CBC results demonstrate a normochromic normocytic anemia, with a red cell morphology within the reference range on the peripheral smear.
Mean corpuscular volume (MCV) is usually within the reference range; however, MCV may be elevated if the patient has begun to recover and has reticulocytosis.
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Hemoglobin studies
The hemoglobin level is usually 5-7 g/dL but may be as low as 2 g/dL.
Transient erythroblastopenia of childhood is frequently accompanied by clinically insignificant neutropenia that spontaneously resolves with the onset of reticulocytosis. Some series report the incidence of associated neutropenia to be as much as 64%.
In contrast, Diamond-Blackfan anemia is characterized by fetal-like hematopoiesis with an increased fetal hemoglobin, I antigen, and MCV.
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Viral studies: A search for a viral etiology, such as cytomegalovirus, Epstein-Barr virus, and parvoviral immunoglobulin (Ig)G and immunoglobulin M, may be useful.
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Reticulocyte count: Initial reticulocyte count is less than 0.1%, and a spontaneous increase heralds the recovery phase.
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Iron studies: Iron studies are not indicated unless microcytosis is present. Serum iron levels may be elevated because of underuse.
Imaging Studies
See the list below:
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In individuals with suspected Diamond-Blackfan anemia, imaging studies may be helpful in revealing occult malformations; however, they are unnecessary for the diagnosis or treatment of transient erythroblastopenia of childhood.
Other Tests
See the list below:
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Bone marrow aspiration
Consider bone marrow studies when clinical history, physical findings, or CBC is inconsistent with classic transient erythroblastopenia of childhood.
In patients with transient erythroblastopenia of childhood, findings include decreased or absent RBC precursors.
Evidence of marrow recovery precedes a rapid rise in hemoglobin levels; thus, bone marrow studies may help determine if a patient with transient erythroblastopenia of childhood who is severely anemic is likely to recover before requiring a blood transfusion.
In vitro studies have suggested that bone marrow cultures may have a future role in determining potential responsiveness of RBC aplasia to immunosuppressive therapy. In patients with classic presentations of transient erythroblastopenia of childhood, bone marrow cultures and immunosuppressive agents do not currently play a role.
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Enzyme levels: Red cell adenosine deaminase levels have been used to differentiate Diamond-Blackfan anemia from transient erythroblastopenia of childhood and other anemias. Enzyme levels are typically elevated in Diamond-Blackfan anemia, whereas levels found in persons with transient erythroblastopenia of childhood are normal or depressed.
