Transient Erythroblastopenia of Childhood

What Is Transient Erythroblastopenia?

Transient erythroblastopenia of childhood is a rare form of slow-developing anemia (lack of enough red blood cells in the blood) without red blood cells. The condition is mainly encountered in children younger than four years. The condition has no known congenital or hereditary etiology and is encountered in the normal bone marrow; the studies suggest the role of viral infections in the emergence of the condition. The prevalence of the disease is noted more amongst males than females; the affected children can present with the symptoms of anemia right at birth, and on gathering family history, it has been observed that at least one of the affected child's siblings is anemic.

What Are the Causes of Transient Erythroblastopenia in Childhood?

The exact cause of the disorder remains unknown. Still, researchers have suggested transient erythroblastopenia in childhood is caused by the following:

• Viral infections - Parvovirus B-19, human herpes virus type 6, echovirus.

• Serum inhibitors of the erythroid progenitor cells.

• Cell-mediated suppression of erythropoiesis (this process produces red blood cells).

What Are the Symptoms of Transient Erythroblastopenia in Childhood?

Transient erythroblastopenia is mainly detected in normally healthy children; the symptoms presented are similar to that of anemia, which include:

• The pallor of the skin and mucosa.

• Tachycardia (increased heart rate).

• Cardiac flow murmur.

• Fatigue.

• Tiredness.

• Weakness.

• Dizziness.

• Fever.

• Malaise.

• Breath-holding spells.

• Jaundice (bilirubin buildup causing yellowish discoloration of the skin).

How Is Transient Erythroblastopenia of Childhood Diagnosed?

Transient erythroblastopenia of childhood is diagnosed in otherwise completely normal children. Most of the time, the disorder is diagnosed clinically or accidentally while carrying out the following lab investigations to rule out other disorders:

• Complete Blood Count (CBC): CBC often reveals normocytic, normochromic anemia. Mild neutropenia and a normal or slightly elevated platelet count are observed.

• Hemoglobin Studies: Hemoglobin electrophoresis is normal in cases with transient erythroblastopenia of childhood; in contrast, DBA frequently shows an elevated hemoglobin F level. Hemoglobin F levels are generally elevated during the recovery phase of transient erythroblastopenia of childhood.

• Reticulocyte Count: Reticulocyte count is low.

• Viral studies.

• Iron studies.

Suppose transient erythroblastopenia is suspected or the diagnosis is unclear even after conducting the lab and physical investigations. In that case, bone marrow examination must be considered, as it is a definitive diagnostic test that can rule out other disorders and differentiate transient erythroblastopenia. The findings of the bone marrow studies include the following:

• Reduced or absent red blood cell precursors in the bone marrow.

• Healthy and completely normal bone marrow.

Other tests that might be required include:

• Biopsy: A biopsy is an invasive procedure and helps determine if the symptoms result from a lack of erythropoietin or the erythroblastic anemia (slow progressing anemia caused by folic acid deficiency) precursor.

• CNS Imaging: These tests can include Computed Tomography (CT scan) or Magnetic Resonance Imaging (MRI) of the brain.

Levels of an enzyme called red cell adenosine deaminase are depressed in patients with transient erythroblastopenia of childhood. This also acts as a marker in differentiating transient erythroblastopenia of childhood from Diamond-Blackfan anemia as the enzyme levels are found elevated in Diamond-Blackfan anemia.

What Is the Differential Diagnosis of Transient Erythroblastopenia of Childhood?

Transient erythroblastopenia of childhood can be confused with the following disorders as they have a similar clinical presentation.

• Acute anemia.

• Acute lymphoblastic leukemia.

• Aplastic anemia.

• Chronic anemia.

• Diamond blackfan anemia.

• Drug-induced anemia.

• Leukemia.

• Parvovirus B-19 infection.

The key factors that help differentiate transient erythroblastopenia of childhood from other types of anemia. These include:

• The patient is aged between the ages of six months to four years.

• The onset of anemia at birth.

• The height and stature of the children with transient erythroblastopenia of childhood are normal.

• Other vital organs like the spleen, kidney, and lymph nodes are normal.

• Levels of folic acid, vitamin B12, serum iron, and ferritin are normal.

• Recovery is fast, and a child recovers completely within two months.

• Lab investigations: Lab investigations during the acute phase report reduced or normal levels of reticulocytes; leukocyte count is normal, whereas platelet count is elevated. During recovery, the reticulocyte count will be high. MCV (Mean Corpuscular Volume) is normal throughout the disease except for the recovery phase.

How Is Transient Erythroblastopenia of Childhood Treated?

Initially, when the child is healthy, it might not require any treatment as the condition heals on its own within two weeks to two months, without any complications or interventions, but in cases where the condition does not improve, or the disease progresses, it might develop complications like hemodynamic instability, exercise intolerance, and altered mental state. These conditions require medical attention and care. In progressive cases of transient erythroblastopenia of childhood, treatment mainly aims at supplying erythrocytes by packed red cell transfusion. Even after transfusion, if the episodes occur recurrently during childhood, it is difficult for the child to survive. These children must be referred to the pediatric hematologist for further evaluation and treatment. Once the treatment is completed and the child is healthy, the condition does not recur. Still, patients who have undergone transfusion can face complications like hemolytic, allergic, and infectious transfusion-related reactions; therefore, such patients should follow up with the physician regularly.

Conclusion:

Transient erythroblastopenia of childhood is a slow-growing anemia with no known cause. It is considered to develop due to underlying viral infections. The condition is characterized by reduced or absence of erythrocytes in children with completely normal bone marrow. Lab investigations show a deficiency of the erythroblast precursor. These children are completely asymptomatic initially but, in later stages, develop symptoms of anemia and might require treatment, including red cell transfusion. In most cases, these children lead a completely normal life, but if complications develop, like hemodynamic instability, a child can fail to thrive; therefore, when such symptoms are noted, a child must be referred to a pediatric hematologist.