Fanconi Anemia

What is Fanconi anemia?

Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a higher than normal risk of cancer. Researchers have shown that defects (mutations) in one of at least 15 different genes can cause FA. The proteins normally produced by these genes form a kind of cellular “machine” that helps detect and repair damaged DNA in blood stem cells and other cells in the body (a normal, daily occurrence). In FA, that DNA repair is slowed. Therefore, blood stem cells (in the bone marrow) accumulate damaged DNA and do not survive.

FA is usually discovered between birth and age 10-15 years. However, there have been cases identified in adulthood. FA occurs equally in males and females. It has been identified in all ethnic groups. Researchers continue to clone and characterize the genes responsible for FA, which is bringing considerable progress in the diagnosis and understanding of this disease.

Meet Ervis.

Born with Fanconi anemia, Ervis has lower-than-normal blood cell counts. This means he is more susceptible to infection and fatigue. It also means he requires monthly blood transfusions — that is until now.

READ MORE

Boy with Fanconi anemia

How we care for FA

Children, teenagers and young adults with FA are treated through our Bone Marrow Failure and Myelodysplastic Syndrome (MDS) Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant programs in the world. Stem cell (bone marrow) transplant is currently the only cure for the blood defects of FA.

Our areas of research for FA

In addition to providing information and access to local and national research initiatives, our Bone Marrow Failure and MDS Program offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with genetic and acquired bone marrow failure syndromes, including FA.

Our research involves a broad range of activities and services that ultimately will lead to the better molecular understanding, diagnosis, and treatment of children with FA. Activities include:

  • a basic research program in FA
  • a FA patient cell repository containing blood samples, bone marrow skin biopsy samples, and tumor specimens from affected patients and families (participation is voluntary). Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of the diseases and clinical outcomes of patients—first steps to identifying possible new treatments.
  • a cytogenetics core laboratory for diagnosis and subtype identification
  • the development of a gene therapy protocol for treatment of FA using induced pluripotent stem cells (iPSCs) from FA patients
  • the identification of a new diagnostic blood test which compliments the current DEB test

Fanconi Anemia Research Fund, Inc.

This non-profit organization was founded in 1989 by the parents of children with FA. The fund’s mission is to find effective treatments and a cure for FA, and to provide education and support services to affected families worldwide. For more information, please visit www.fanconi.org.

Clinical trials

For many children with rare or hard-to-treat conditions, clinical trials provide new options. Search our clinical trials.