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Fanconi Anemia

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Fanconi Anemia, Fanconi's Anemia, Diamond-Blackfan Anemia, Congenital Pancytopenia

  • Epidemiology
  1. Incidence: 1 in 60,000 to 300,000 births
  2. Diagnosis often not identified until age 2-7 years
  3. Higher Prevalence in Ashkenazi Jews (Carriers: 1 in 89)
  • Pathophysiology
  1. Autosomal Recessive birth defect associated with VACTERL-H
  2. Hereditary Bone Marrow failure
  • Signs
  1. Patchy brown Hyperpigmentation
  2. Cafe Au Lait spots
  3. Short Stature
  4. Microcephaly
  5. Hypogonadism
  6. Strabismus
  7. Renal hypoplasia
  8. Microphthalmia
  9. Mental Retardation
  10. Extra-digits or absence of digits
  11. Purpura
  • Labs
  1. Complete Blood Count
    1. Pancytopenia including Neutropenia
  2. Chromosomal Breakage with exposure to deiepoxybutane
  • Management
  1. Corticosteroids
  2. Maintenance androgen therapy
  3. Avoid Alcohol and other toxic substances
  4. Use sun protection (Sunscreen)
  5. Monitor for hematologic abnormalities
  6. Transfuse for severe cytopenias as needed
  7. Consider Bone Marrow Transplant
  8. Consider Danazol
  • Complications
  1. Malignancy (esp. Acute Myelogenous Leukemia)
  2. Bone Marrow Failure (often by 7 years of age)
  • References
  1. Lee (1999) Wintrobe's Hematology, Lippincott, p. 1473
  2. Alter (1996) Am J Hematol 53(2):99-110 [PubMed]
  3. Da Costa (2001) Curr Opin Pediatr 13(1): 10-5 [PubMed]
  4. Kim (2025) Am Fam Physician 112(6): 618-28 [PubMed]
  5. Krijanovski (1997) Hematol Oncol Clin North Am 11:1061 [PubMed]