Treatment Options
Fanconi Anaemia (FA) is a multifaceted disease and may require treatment from a variety of specialists.
Because FA can affect multiple body systems, care is often best managed by a multidisciplinary team that
works together to coordinate treatment.
Depending on an individual’s medical issues, different specialists may be involved in care, including:
Specialist support
Whole-body care
Additional support
Other specialists may be consulted as needed based on the patient’s symptoms and complications.
How Doctors Diagnose Bone Marrow Failure
Individuals with FA often present with bone marrow failure or squamous cell carcinoma at a very early age.
Diagnosed using:
Initial assessment
Bone marrow tests
Both tests are used to see whether the bone marrow is making enough blood cells.
Why early diagnosis matters:
FA patients often respond poorly to standard chemotherapy and radiation. Knowing a patient has FA before
starting treatment for aplastic anaemia or cancer allows doctors to choose safer, more effective treatment
plans.
OVERVIEW
Bone Marrow Failure
A bone marrow transplant (also called a haematopoietic stem cell transplant) is currently the only cure for
progressive bone marrow failure in FA.
01 · SUPPORTIVE CARE
Medical Management Before a Transplant
Before a transplant is possible, FA patients may need supportive treatments to manage symptoms and stabilise their health, including:
02 · BONE MARROW
What is Bone Marrow and Why is it Important?
Bone marrow is the spongy tissue found inside your bones. It produces:
03 · TRANSPLANT PATHWAY
Overview of a Bone Marrow / Stem Cell Transplant
A bone marrow or stem cell transplant replaces damaged or diseased blood-forming cells with healthy ones
from a matching donor.
Why donor matching matters:
The donor’s cells must match the patient’s cells as closely as possible to reduce the risk of graft-versus-host disease (GVHD), a potential complication where the new immune cells attack the patient’s body.
The Transplant Process:
RESOURCES
Further Information & Resources
For more information about stem cell transplants, becoming or finding a donor, and learning about risks, visit:
View or Download the BMT Infographic
For more information about blood transfusions, becoming a donor, and understanding the risks, visit: South Africa National Blood Services (SANBS)
Life after a transplant
FA HEALTH RESOURCE
Even after a bone marrow / stem cell transplant cures bone marrow failure, FA patients remain at high risk for certain solid tumors. Regular health check-ups and annual cancer screenings are essential for early detection and prevention.
Download the ‘8 FA Cancer Facts to Remember’ guide in your preferred language.
FREE PATIENT RESOURCE
8 FA Cancer Facts to Remember
Choose a language below to view or download the PDF.
For Patients Diagnosed with Cancer
Individuals with Fanconi Anaemia (FA) have a higher risk of developing certain cancers, especially squamous cell carcinomas. Because of the unique challenges FA presents, conventional treatments like chemotherapy and radiation may cause harmful side effects and are often limited.
Prevention and early detection are key to managing these risks and improving quality of life.
We encourage you to explore our Support page, where you’ll find innovative resources and guidance from leading FA researchers and healthcare experts. These tools are designed to help you navigate the complexities of FA-related cancer risks with confidence and care.
There’s Hope
Gene Therapy in Fanconi Anaemia: An Update
For over 30 years, the Fanconi Cancer Foundation has supported groundbreaking research worldwide to improve treatments and outcomes for people living with Fanconi Anaemia (FA). Thanks to their dedication, promising advances in gene therapy are becoming a reality. Discover the latest breakthroughs and what they could mean for the future of FA care by reading more below.