Fanconi Anemia FAQ

We understand that a Fanconi anemia diagnosis can bring up many questions for your family. We’re here to help with answers to some common questions about Fanconi anemia.

How do I contact your program?

To learn more about the Bone Marrow Failure Disorders Program or request an appointment, please call (650) 497-8953, email us, or fill out a short request form. If you live outside the United States, please reach out via our International Patient Services. We also provide second opinions in person or via our telehealth services.

What if we live out of the area or state?

We are happy to have an initial telehealth visit to answer any questions you or your child’s doctor may have. If you choose to move forward with us for further diagnostics, monitoring, or treatment, we can help you with travel and housing arrangements and offer other support through Patient and Family Services. After your child establishes care with our program, we can also provide follow-up care via telehealth visits in partnership with your child’s local lab and local doctor.

What is a stem cell (bone marrow) transplant?

If your child’s bone marrow is not working properly, our doctors might recommend a stem cell transplant. During a stem cell transplant, your child’s diseased bone marrow is replaced with healthy stem cells. The goal of the transplant is restoration of the blood and immune system through engraftment of healthy blood stem cells, which come from a donor.

Before his or her transplant, your child will need to undergo conditioning to prepare his or her bone marrow for transplant, which we tailor for each patient. The success rate of stem cell transplants has greatly improved in recent years, and stem cell transplant is viewed as a cure for many blood and immune diseases.

Where will my child stay during the stem cell transplant?

Your child will visit our Bass Center for Childhood Cancer and Blood Diseases clinic and also spend several weeks at our hospital before, during, and after stem cell transplant in our new inpatient unit. The unit is dedicated to providing innovative treatments for cancer, blood and immune disorders, and other genetic diseases in children. This hub, which also houses first-of-their-kind clinical trials, has advanced infection control, with HEPA-filtered air on the entire floor and positive-pressured rooms. It also includes a dedicated playroom, family-friendly rooms, and pleasing common areas.

What is gene therapy for Fanconi anemia?

Each gene contains a blueprint to make a protein, and proteins perform numerous important functions. When patients lack certain proteins, various problems can arise. In Fanconi anemia, mutations in FANC genes lead to a lack of proteins involved in repairing damage to genetic material (DNA) in cells, resulting in the problems associated with the disorder. To date, 23 genes have been associated with FA leading to various subtypes of FA.

About 60% of FA patients have defective FANCA genes leading to subtype FA-A. For these patients, experimental gene therapy offers the chance to replace the defective FANCA genes with a complete version, potentially improving how cells function and possibly offering a cure. This is done by first mobilizing blood-forming stem cells out of the bone marrow of patients, removing them via a special procedure called apheresis; inserting the FANCA gene into these stem cells using a specialized virus; and then infusing these corrected stem cells back into the patient. We do this without any chemotherapy or irradiation in hopes of sparing patients from needing a future donor stem cell transplant.

What are the side effects from the gene therapy?

In any research study where a new therapy is being tested, there is a chance that a patient may get sick from the new treatment. Gene therapy is still experimental, and there is a small chance of reactions, infections, acceleration of bone marrow failure, or the potential to develop cancer. To date, no serious side effects have been associated with the infusion of gene-corrected cells into FA patients.

What are the side effects of a stem cell transplant?

As with any major treatment, stem cell transplantation comes with certain risks. Although we have exceptional outcomes and use the best protocols possible, patients can still experience both short-term and long-term side effects, including serious infections, graft-versus-host disease, organ damage, cancer, or the graft not taking. Due to these risks, we try to avoid stem cell transplant until it is necessary and take many pretransplant precautions, including offering fertility preservation. Talk to your doctor about risks and benefits of the procedure.

Where can I learn more about Fanconi anemia?

We welcome all inquiries, and our team is happy to teach you more about this unique disorder. In addition, we recommend reaching out to the Fanconi Anemia Research Fund. On their website, you can learn all about FA; receive support services, including family support and networking with other families or adults with FA; understand the latest research; and more. We are honored to work closely with them to optimize care for FA patients.