How is Fanconi Anaemia Treated?

There is no way to prevent Fanconi Anaemia (FA) since it is inherited.The treatment of Fanconi anaemia (FA) by the specialists involved is based on a patient’s age and how well the person’s bone marrow is making new blood cells

Goals of Treatment

Long-term treatments for FA can:

Cure the anaemia. Damaged bone marrow cells (marrow that is unable to produce the red blood cells, white blood cells and platelets) are replaced with healthy ones that can produce these blood cells.

—  or  —

Treat the symptoms of the anaemia without curing the cause. This is done using medicines and other substances that can help your body make up for the shortage of blood cells it produces. This treatment works for a limited time only.

Screening and Short-Term Treatment

Even if you or your child has FA, your bone marrow might still be able to make enough new blood cells for an unknown period of time. If so, your doctor might suggest frequent full blood counts and will be closely monitored for your condition.

Your doctor will probably require you to have a bone marrow tests annually. Screening of cancers and tumours must be done annually for any possible signs.

If there are signs that your blood counts are beginning to drop sharply and stay low, your bone marrow might be showing signs of failing. Your doctor may prescribe antibiotics to help your body fight infections. In the short term, he or she also may want to give you blood transfusions to increase your blood cell counts to normal levels again.

Long-term use of blood transfusions can reduce the chance that other treatments will work.

Long-Term Treatment

The four main types of long-term treatment for FA are:

  • Androgen therapy
  • Peripheral or bone marrow stem cell transplants
  • Gene therapy
  • Synthetic growth factors

Androgen Therapy

Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people living with FA. Androgens are man-made male hormones that can help your body make more blood cells for long periods of time.

Androgens increase your red blood cell and platelet counts a great deal. They unfortunately do not work as well at raising your white blood cell count.

Ongoing treatment with androgens may be needed to control the effects of FA, as androgens don’t enable bone marrow to make enough of all three types of the needed blood cells.

Your body eventually rejects the androgen treatment and reduces the effectiveness of the androgen treatment, which means that other treatments will be needed.

Androgen therapy can have serious side effects, such as liver disease. This treatment also doesn’t prevent leukaemia (a type of blood cancer) from developing.

Stem cell transplants

A  stem cell transplant is currently the best treatment for patients who have FA that is causing severe bone marrow failure. Healthy stem cells from another person (a donor) are used to replace the faulty cells in the bone marrow.

Three types of stem cells could be used:

  • Peripheral stem cells which are harvested in a process similar to blood donation.
  • Bone marrow stem cells which can be collected by drawing bone marrow from the center of bone – normally the hip or sternum
  • Umbilical cord blood (UCB) which is collected from the umbilical cord after the birth of a child.

For the best chance of a successful stem cell transplant, a suitable donor whose stem cells match yours as closely as possible needs to be found, this is not as easy as it sounds. The best HLA (human leukocyte antigen) match is noted as a 10/10 or 12/12 match for peripheral or bone marrow stem cells. For a UCB (umbilical cord blood) transplant a full match is noted as 6/6.

Stem cell transplants are most successful in younger people who:

  • have few or no serious health problems,
  • receive stem cells from a brother or sister who is a good donor match,
  • have had few or no previous blood transfusions, and

The transplant will normally follow chemotherapy. During the transplant, you will get donated stem cells in a procedure much like a blood transfusion. Once the new stem cells are in your blood system, they travel to your bone marrow and begin making the new blood cells required.

A successful stem cell transplant will allow your body to make enough of all three types of blood cells, i.e red blood cells, white blood cells and platelets.

Even after a stem cell transplant to treat the aplastic anaemia, the risk for some types of blood cancer and cancerous solid tumours remain. Regular health and cancer checks should be done after the procedure.

For more information about stem cell transplants, including finding a donor, having the procedure, and learning about the risks, go to the South Africa Bone Marrow Registry (SABMR).

To sign up as a stem cell donor, visit the Sunflower Fund.

For more information about blood transfusions, including becoming a donor, having the procedure, and learning about the risks, go to the South Africa National Blood Services (SANBS)

Gene Therapy

Researchers are currently looking for methods to replace faulty FA genes with normal, healthy genes. They hope these genes will make proteins that can repair and protect bone marrow cells. Early results of this therapy hold promise, but more research is needed.

Synthetic Growth Factors

Your doctor may choose to treat your FA with growth factors. These are substances found in your body, but they also can be man-made.

Growth factors help your body produce more red and white blood cells. Growth factors that help your body make more platelets are still being studied.

More research is needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens.