Treatment of the bone marrow failure in Fanconi anemia patients with danazol

Blood Cells Mol Dis. 2012 Feb 15;48(2):128-31. doi: 10.1016/j.bcmd.2011.11.006. Epub 2011 Dec 16.


More than 90% of Fanconi anemia (FA) patients experience progressive bone marrow failure during life with a median onset at 8 years of age. As matched sibling donor transplantation as preferred treatment is not available for the majority of patients, several synthetic androgens have been used as short-term treatment options for the marrow failure in FA patients for more than 50 years. Here, we retrospectively collected data on eight FA patients who received danazol for the off-label treatment of their marrow failure at a starting dose of approximately 5mg/kg body weight/die. The hematological parameters at the initiation of treatment were hemoglobin (Hb) <8 g/dL and/or thrombocytes <30,000/μl. In 7 out of 8 FA patients, the values for both parameters rose on average >50% over the starting counts within 6 months and remained stable for up to 3 years despite careful reduction of the danazol dose per kg body weight. In 4 patients with a follow-up of 3 years, the platelets finally reached an average of 68,000/μL or 2.8 times over the starting values, while the Hb remained stable >11 g/dL. Danazol was reduced to 54% of the starting dose or 2.6 mg/kg/die. One FA-A patient with an unusually severe phenotype did not response with her PB counts to either danazol or oxymethalone within 6 months. None of the patients developed severe or unacceptable side-effects from the danazol treatment that led to the discontinuation of therapy. This initial description suggests that danazol might be an effective and well-tolerated treatment option for delaying the progressive marrow failure in FA patients for at least 3 years and longer.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blood Cell Count
  • Bone Marrow / pathology*
  • Child
  • Child, Preschool
  • Danazol / therapeutic use*
  • Estrogen Antagonists / therapeutic use*
  • Fanconi Anemia / blood
  • Fanconi Anemia / drug therapy*
  • Fanconi Anemia / genetics
  • Female
  • Humans
  • Male
  • Mutation
  • Young Adult


  • Estrogen Antagonists
  • Danazol