Pure red cell aplasia

Pure red cell aplasia

Updated: 07/10/2024

© Jun Wang, MD, PhD

 

General features

  • Severe reticulocytopenia and marked reduction of erythroid precursors from the bone marrow
  • Associated with maturation arrest of erythroid lineage
  • Often reversible if caused by medications and infections

Etiology

  • Heterogeneous etiology, or idiopathic
  • Inherited or acquired
  • Transient erythroblastopenia of childhood (TEC) after viral infections

Inherited pure red cell aplasia

  • AKA Diamond-Blackfan syndrome, rare congenital PRCA
  • Deletion of ribosomal protein RPS19 genes in up to 25% pts
  • GATA-1 mutation in a minority of pts
  • Ribosome biogenesis abnormalities result in activation of p53 and arrest of cell cycle at G0/G1
  • Detected during the first 18 months, may be at birth
  • Macrocytic anemia with increase HbF and surface “I” antigen
  • May have concurrent developmental defects, including cleft palates, macroglossia, craniofacial defects, thumb or upper limb abnormalities, cardiac defects, and urogenital malformations

Acquired pure red cell aplasia

  • Most common form of PRCA in adults
  • May be associated with

o   Autoimmune disorders

o   Infections

o   Drugs

o   Pregnancy

o   Renal failures: due to reduced erythropoietin production or anti-erythropoietin after recombinant erythropoietin use

o   Hematologic malignancies and solid tumors, such as thymomas

Transient PRCA

  • May be associated with Parvovirus B19 infection
  • Commonly last 5-10 days
  • Invade progenitor erythroid cells through P antigen
  • Virus infection injures late progenitor cells, inhibiting erythropoiesis
  • Marrow with large proerythroblasts with vacuolated cytoplasm and pseudopodia
  • May result in transient aplastic crisis
  • Virus will be neutralized by antiviral antibodies, mainly IgG

Clinical presentations

  • Symptoms depend on the severity of the anemia
  • Clinical presentations of anemia
  • History and physical examination findings useful for determining etiology and underlying disorders

Key Laboratory findings

  • Severe normocytic normochromic anemia with reticulocytopenia
  • Reticulocyte count < 1%
  • Bone marrow with <0.5% mature erythroblasts (normal 5-10%)
  • Normocellular bone marrow in most cases 
  • Elevated serum iron and very high transferrin saturation
  • Normal myeloid and megakaryocytic series

Management

  • Transfusion for severe anemia
  • Managements of underlying disorders

Prognosis

  • Childhood PRCA usually have good prognosis

 

 

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