Fanconi Anaemia

Fanconi Anaemia (FA) is a rare genetic disorder; it is one of the inherited bone marrow failure syndromes that affects many organs of the body. The hospital provides comprehensive disease-specific multidisciplinary care to manage this complex chronic disease.

We offer ongoing comprehensive management of new and previously diagnosed FA patients, including:

• Diagnostic testing and screenings of siblings;
• Genetic counselling: 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 (Julie Curtin);
• Blood and marrow transplantation (Peter Shaw): comprehensive program of related, unrelated and haploidentical marrow, PBSC and cord blood transplant;
• Co-ordinated long term follow up and ongoing surveillance, with particular reference to BMT Follow Up (Ida O'Brien); oral (Mark Schifter), Head and neck cancer screening (Carsten Palme) and Endocrine follow-up (Chris Cowell);
• Translational research on non-radiotherapy based BMT conditioning including a well established drug pharmacokinetic laboratory for real time tailoring of drug doses in individual patients (Peter Shaw).

Dr Julie Curtin, PhD, Head Haematology Department
Telephone: 02-9845-0000 Fax: 02-9845-3332
E-mail: juliec@chw.edu.au

Professor Peter Shaw, Head BMT Service
Telephone: 02-9845-0000 Fax: 02-9845-2171
E-mail: peters@chw.edu.au

Ida O'Brien, BMT Follow Up Clinical Nurse Consultant.
Telephone: 02-9845-0000 Fax: 02-9845-2171
E-mail Idao1@chw.edu.au

Dr Meredith Wilson, Clinical Geneticist & Head Department of Clinical Genetics
Telephone: 02-9845-3273 Fax: 02-9845-3204

Dr Michael Bellmore, Head Orthopaedic Surgery
Telephone: 02-9845-0000 Fax: 02- 9845-2702
E-mail: MichaeB3@chw.edu.au

Professor Chris Cowell, Head Endocrinology Department
Telephone: 02-9845-0000 Fax: 02-9845-3170
E-mail: chrisc@chw.edu.au

Dr Carsten E Palme FRACS, Surgeon, Otolaryngology Head & Neck Surgery,
Telephone 02-9845-6025 Fax: 02-9893-7440 Department of Surgery, Westmead Hospital
E-mail: Carsten_Palme@wsahs.nsw.gov.au

Mark Schifter, Oral Medicine and Oral Pathology
Telephone 02-9845-8716 fax 02-9845-5740
E-mail: mark_schifter@wsahs.nsw.gov.au