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Snapshot
  • An 11-month-old Caucasian boy presents to the emergency department for severe fatigue. His symptoms progressively worsened to the point where he is unresponsive. On physical exam, the patient has a flat nasal bridge and triphalangeal thumbs. Laboratory testing is significant for an isolated macrocytic anemia, reticulocytopenia, and increased HbF. Genetic testing is pursued, which demonstrates a ribosomopathy.
Introduction
  • Clinical definition
    • isolated anemia and reticulocytopenia due to a pure red cell aplasia (PRCA)
  • Etiology
    • may be due to congenital (e.g., Diamond-Blackfan anemia) or acquired (e.g., transient erythroblastopenia, paraneoplastic syndromes, and parvovirus B19 infection) causes
 
Pure Red Cell Aplasia
Cause
Clinical Findings
Laboratory Findings Treatment
Diamond-Blackfan anemia (DBA)
  • Typically occurs in infancy
  • Congenital abnormalities
    • growth retardation
    • craniofacial abnormalities
      • e.g., hypertelorism and a flat nasal bridge
    • thumb abnormalities
      • e.g., triphalangeal thumbs
  • Predisposition to cancer
    • acute myelogenous leukemia
    • myelodysplastic syndrome
  • Etiology
    • congenital impairments affecting ribosome synthesis
  • Macrocytic, normochromic, and non-megaloblastic anemia
  • Reticulocytopenia
  • Increased HbF
  • Corticosteroids and blood transfusions
  • Hematopoietic cell transplantation in patients unresponsive to steroids
Transient erythroblastopenia of childhood (TEC)
  • Transient/temporary red cell aplasia
    • DBA is chronic
  • The child is otherwise healthy
  • Etiology
    • unknown
  • Normocytic anemia at the time of diagnosis
  • Reticulocytopenia
  • Patients typically recover 1-2 months without treatment
    • RBC transfusions may be needed for disabling symptoms
Parvovirus B19 
  • Patients with an underlying hemolytic process may experience an aplastic crisis with parvovirus B19 infection
    • e.g., sickle cell anemia, hereditary spherocytosis, and pyruvate kinase deficiency
  • Etiology
    • temporary cessation of RBC production with a viral infection of erythroid progenitors via a P-antigen receptor
  • Proerythroblasts and absent erythroid precursors may be seen in the bone marrow
  • Otherwise healthy children do not require treatment
  • Patients with an underlying hemolytic process receive RBC transfusions for symptomatic anemia
Paraneoplastic syndrome
  • Hemoglobin decline in a patient who has not had a transfusion and previously responded to erythropoietin
  • Etiology
    • underlying malignancy can result in the production of anti-erythropoietin antibodies
      • malignancies
        • thymoma
        • myelodysplastic syndromes
  • Bone marrow aspirate
    • severe erythroid hypoplasia
    • very little RBC precursors
  • Present anti-erythropoietin antibodies
  • Transfusions for symptomatic anemia
  • Discontinue recombinant erythropoietin (EPO) products
  • Immunosuppression
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