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3.6: Fanconi Anemia

Table of Contents

Fanconi anemia is an autosomal recessive inherited disorder of bone marrow failure syndrome characterized by decreased production of all types of blood cell. The underlying problem appear to be defective DNA repair

Diagnostic Criteria

  • Growth retardation and congenital defect of the skeleton.
  • Abnormal skin pigmentation (café-au-lait spots).
  • Any of 8 gene mutations FANCA through FANCL are associated.
  • The majority of the patients have mutations of FANCA, C or G.
  • Marrow hypocellularity and pancytopenia may appear gradually after age 5yrs.

Clinical Features

  • Fatigue
  • Pallor, dyspnoe on exertion,
  • Bleeding
  • Infection as a consequence of cytopenia
  • Growth retardation result in short stature especially dysplastic radii and thumbs
  • Microcephaly and mental retardation may be a feature
  • Hypogonadism

The median survival of untreated severe aplastic anaemia is 3-6 months (~20% survive longer than 1 year

Non-Pharmacological Treatment


  • Blood transfusion (irradiated, leucodepleted) when Hb<7
  • Platelet transfusion if bleeding (using single donor)
  • Antibiotic esp broad spectrum to prevent infections
  • Netropenic measure possible isolation of the patient, use of mask
  • Allogeneic stem cell transplantation (indicated in patients younger than 45yrs)

Pharmacological Treatment

Immunosuppressive Therapy

S: Anti-thymocyte globulin (ATG) 40mg/kg/daily IV 4–10 days


10–20 mg/kg IV every day for 8–14 days, then every other day PRN up to total of 21 doses


S: Cyclosporine 3–7mg/kg daily 4–6 month


S: Methylprednisolone 5–10mg/kg for 3–14 days


S: Cyclophosphamide 45mg/kg per day for 4 doses


S: Danazol 5mg/kg/day for 6 months

Give supportive therapy and refer to higher health facility with adequate expertise and facilities patient to tertiary hospital for diagnosis and treatment.


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