Pure Red Cell Aplasia

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
CauseClinical FindingsLaboratory FindingsTreatment
Diamond-Blackfan anemia (DBA)Typically occurs in infancyCongenital abnormalitiesgrowth retardationcraniofacial abnormalitiese.g., hypertelorism and a flat nasal bridgethumb abnormalitiese.g., triphalangeal thumbsPredisposition to canceracute myelogenous leukemiamyelodysplastic syndromeEtiologycongenital impairments affecting ribosome synthesisMacrocytic, normochromic, and non-megaloblastic anemiaReticulocytopeniaIncreased HbFCorticosteroids and blood transfusionsHematopoietic cell transplantation in patients unresponsive to steroids
Transient erythroblastopenia of childhood (TEC)Transient/temporary red cell aplasiaDBA is chronicThe child is otherwise healthyEtiologyunknownNormocytic anemia at the time of diagnosisReticulocytopeniaPatients typically recover 1-2 months without treatmentRBC transfusions may be needed for disabling symptoms
Parvovirus B19  Patients with an underlying hemolytic process may experience an aplastic crisis with parvovirus B19 infectione.g., sickle cell anemia, hereditary spherocytosis, and pyruvate kinase deficiencyEtiologyviral infection of erythroid progenitors via a P-antigen receptor resulting in lytic destruction of proerythroblastsProerythroblasts and absent erythroid precursors may be seen in the bone marrowOtherwise healthy children do not require treatmentPatients with an underlying hemolytic process receive RBC transfusions for symptomatic anemia
Paraneoplastic syndromeHemoglobin decline in a patient who has not had a transfusion and previously responded to erythropoietinEtiologyunderlying malignancy can result in the production of anti-erythropoietin antibodiesmalignanciesthymomamyelodysplastic syndromesBone marrow aspiratesevere erythroid hypoplasiavery little RBC precursorsPresent anti-erythropoietin antibodiesTransfusions for symptomatic anemiaDiscontinue recombinant erythropoietin (EPO) productsImmunosuppression