Fanconi anaemia services at The Children's Hospital at Westmead

Contact details

Enquiries: (02) 9845 0000

Fax (Haematology): (02) 9845 3332

The Children's Hospital at Westmead offers ongoing comprehensive management of new and previously diagnosed fanconi anaemia patients, including:

  • Diagnostic testing and screenings of siblings
  • Genetic counselling, including the coordination of complementation studies or gene testing via overseas facilities to identify causative mutations in affected individual, discussion of family planning options for future pregnancies, including prenatal diagnosis or IVF-pre-implantation genetic diagnosis for those with identified mutations
  • Orthopaedic management, including specialist hand, upper limb and congenital hand clinic
  • Haematological management 
  • Blood and marrow transplantation 
  • Comprehensive program of related, unrelated and haploidentical marrow and cord blood transplant
  • Co-ordinated long term follow up and ongoing surveillance, with particular reference to bone marrow transplant follow-up
  • Oral, head and neck cancer screening and endocrine follow-up
  • Translational research on non-radiotherapy based bone marrow transplant conditioning, including a well-established drug pharmacokinetic laboratory for real-time tailoring of drug doses in individual patients