Transient Erythroblastopenia of Childhood

Updated: Sep 17, 2019
  • Author: Lennox H Huang, MD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Overview

Practice Essentials

Transient erythroblastopenia of childhood (TEC) is a slowly developing anemia that occurs in early childhood and is characterized by a gradual onset of pallor. As the name suggests, all patients with transient erythroblastopenia of childhood recover completely without sequelae. [1]

Signs and symptoms of transient erythroblastopenia of childhood

Patients with transient erythroblastopenia of childhood (TEC) are usually healthy except for findings commonly associated with anemia, such as skin and mucosal pallor, tachycardia, and, often, a cardiac flow murmur. [2] Occasionally, parents report increased fatigue or decreased energy levels in children with the condition.

Workup in transient erythroblastopenia of childhood

The following studies are indicated in patients with suspected transient erythroblastopenia of childhood (TEC):

  • Complete blood count (CBC)
  • Hemoglobin studies
  • Viral studies
  • Reticulocyte count
  • Iron studies

Consider bone marrow studies when clinical history, physical findings, or CBC is inconsistent with classic transient erythroblastopenia of childhood. In patients who do have the condition, bone marrow findings include decreased or absent red blood cell (RBC) precursors.

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.

Management

Packed red cell transfusions are required in patients with severe transient erythroblastopenia of childhood (TEC) when signs of clinical decompensation are evident. Conditions in which transfusion may be necessary include hemodynamic instability, exercise intolerance, and altered mental status.

Refractory incidents of transient erythroblastopenia of childhood may be associated with a failure to thrive and also may require packed red cell transfusion.

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Pathophysiology

The etiology of transient erythroblastopenia of childhood is unknown. However, researchers have proposed numerous viral and immunologic mechanisms. At least 2 separate case reports have noted pure red cell aplasia with concomitant human parvovirus B19 infection. [3, 4] However, a prospective case series of 10 patients failed to identify a single viral causative agent for transient erythroblastopenia of childhood. [5]

Human herpesvirus 6 (HHV-6) has been cited, albeit in only a few studies, as a source of transient erythroblastopenia of childhood. In vitro analysis has demonstrated suppression of erythroid-committed progenitor cells and multipotential hematopoietic colonies by the virus. In addition, Ogawa and Yanagisawa reported finding distinct erythroblast deformation, including the presence of pseudopodia and filamentous changes, in association with HHV-6–related transient erythroblastopenia of childhood. [6]

In vitro studies using serum and immunoglobulin G (IgG) from some patients with transient erythroblastopenia of childhood demonstrated erythroid colony suppression, suggesting an immunologic etiology. Transient erythroblastopenia of childhood is not caused by a lack of erythropoietin. Bone marrow from patients with transient erythroblastopenia of childhood exhibits an absence of red cell precursors.

A case report of half siblings with transient erythroblastopenia of childhood and the accompanying literature review suggests that predisposition to transient erythroblastopenia of childhood may be autosomal dominant in nature. [7]

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Epidemiology

Frequency

United States

Attempts to determine frequency of transient erythroblastopenia of childhood are limited by an unknown number of asymptomatic undiagnosed cases.

Mortality/Morbidity

Morbidity relates to the severity of the anemia and diagnostic workup. Children with transient erythroblastopenia of childhood have reportedly presented with high-output shock secondary to profound anemia. [8] Patients with atypical transient erythroblastopenia of childhood may require invasive tests such as bone marrow aspiration or biopsy. Association of transient neurologic deficits may lead the physician to pursue CNS imaging studies or a neurologic consultation.

A study by Schmidt et al of children under age 10 years indicated that a link may exist between breath-holding spells and TEC. The investigators found that nine out of 366 patients with anemia (2.5%) had breath-holding spells, including five out of the 41 anemia patients who specifically had TEC (12.2%). In comparison, there were 321 cases of breath-holding spells found in the total cohort of 443,470 children studied (0.07%). It was also reported that the breath-holding spells resolved in several of the patients treated for anemia. [9]

Sex

The male-to-female ratio is 1.4:1.

Age

The median age of presentation is 18-26 months; however, the disorder may occur in infants younger than 6 months and in children as old as 10 years. In contrast, Diamond-Blackfan anemia tends to present in child younger than 1 year, whereas human parvovirus B19–associated erythroblastopenia typically presents at an older age.

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