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Updated: 2/7/2020

Diamond-Blackfan Anemia

Review Topic
  • Snapshot
    • A 2-month-old girl presents to the emergency department with lethargy. She was born to a 28-year-old mother at 37 weeks gestation via an uncomplicated spontaneous vaginal delivery. Physical examination is notable for conjunctival pallor and triphalangeal thumbs. Laboratory testing is remarkable for a macrocytic anemia, reticulocytopenia, and elevated erythrocyte adenosine deaminase activity.
  • Introduction
    • Overview
      • a congenital impairment in erythrocyte formation that usually presents in infancy
        • results in a pure red cell aplasia, which is an isolated anemia with reticulocytopenia
      • characteristic findings include
        • normochromic and usually macrocytic anemia
        • reticulocytopenia
        • decreased or absent erythroid precursors in the bone marrow
        • elevated erythrocyte adenosine deaminase
        • increased hemoglobin F
        • presence of red blood cell i antigen
    • Epidemiology
      • demographics
        • ~90% of patients are diagnosed within the first year of life
        • ~35% of patients are diagnosed within the first month of life
    • Pathophysiology
      • believed to be due to genetic mutations impairing ribosome synthesis
        • through unclear mechanisms, this results in activation of tumor protein p53, which impairs erythropoiesis
    • Genetics
      • inheritence pattern
        • usually autosomal dominant
      • mutations
        • impaired ribosome synthesis
    • Associated conditions
      • increased risk for malignancies
        • acute myelogenous leukemia
        • myelodysplastic syndrome
        • solid tumors (e.g., colon cancer)
    • Prognosis
      • 40% of patients become steroid dependent
      • 40% of patients are blood transfusion dependent
      • spontaneous remission has been reports in ~25% of patients
  • Presentation
    • Symptoms
      • fatigue or lethargy
      • poor feeding
    • Physical exam
      • congenital abnormalities (30-50% of patients)
        • craniofacial abnormalities
          • hypertelorism
          • microcephaly
        • ophthalmic abnormalities
          • congenital cataracts or glaucoma
        • neck anomalies
          • scapular elevation
          • Turner-like appearance
            • vertebral fusion with flaring of the trapezius muscles
        • cardiac and pulmonary anomalies
          • atrial and ventricular septal defects
        • thumb abrnormalities
          • triphalangeal thumb
  • Studies
    • Serum labs
      • isolated macrocytic anemia
        • white blood cells and platelets are typically normal
      • reticulocytopenia
      • elevated hemoglobin F
      • elevated erythrocyte adenosine deaminase activity
    • Invasive studies
      • bone marrow examination
        • normal overall cellularity
        • decreased or absent erythroid precursors
  • Differential
    • Transient erythroblastopenia of childhood
      • differentiating factors
        • an acquired anemia typically secondary to a viral illness
        • absent congenital anomalies
        • normal erythrocyte adenosine deaminase activity
        • absent red blood cell I antigen
  • Treatment
    • Medical
      • corticosteroids
        • indication
          • first-line treatment option that is preferably given in infants at least 6-12 months of age
        • comments
          • reticulocytes typically begin to appear and increase within 1-2 weeks
      • blood transfusion
        • indication
          • first-line treatment in patients who are not responding to corticosteroids or are not candidates for corticosteroids
  • Complications
    • Iron overload from blood transfusions
    • Hyperglycemia from corticosteroids
    • Anemia

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