Fanconi Anemia

Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome that over time leads to aplastic anemia. It occurs when there is a defect in one of several FA genes. 

Approximately 10 to 20 children are born with FA each year in the United States. Sometimes, FA may be suspected at birth by one or more of these physical traits:

  • Skin discolorations
  • Hand, arm and other skeletal anomalies
  • Kidney problems
  • Small head or eyes
  • Low birth weight
  • Gastrointestinal problems (bowel)
  • Small reproductive organs in males
  • Heart defects

Since these physical characteristics can be indicative of other conditions, and since some patients may have no obvious physical traits of FA, the condition may not be diagnosed at birth.

They may exhibit symptoms such as:

  • Unexplained fatigue
  • Recurrent colds or viral infections
  • Recurrent nosebleeds
  • Easy bruising
  • Blood in the stool or urine
  • Shortness of breath
  • Poor growth / short stature

In rare cases, symptoms do not occur until early adulthood.

Diagnosis of Fanconi Anemia

Anyone who has displayed the physical characteristics and symptoms of FA or who develops aplastic anemia should be tested for FA. Initially, blood tests will be done to check for low white blood cell, red blood cell and platelet counts and other abnormalities.

In addition to a complete medical history and thorough physical exam, testing can be performed to diagnose FA which may include chromosomal breakage studies (DEB +/- MMC) and genetic testing to look for the causative gene. 

Upon diagnosis, patients will be referred to a multidisciplinary team of specialists, including a hematologist and other specialists with expertise in Fanconi anemia, who can treat both FA and the complications of the condition.

Families will also learn about treatment options and meet with the bone marrow transplant team. Routine testing on vital organs may also be conducted to check for any abnormalities.

Treatment for Fanconi Anemia

The progression of the disease varies in patients and requires regular, life-long monitoring. Treatment strategies depend on the stage of the condition and the extent of physical traits and complications that result from the condition.

Current therapies for Fanconi anemia include:

  • The use of hormones to stimulate red blood cell production
  • Bone marrow transplantation (BMT) when the condition becomes severe or if patients are not candidates for hormones or growth factors; BMT can be a cure for the blood problems associated with FA (aplastic anemia and risk of MDS/leukemia)
  • Other novel and investigational therapies are available through the Fanconi Anemia Comprehensive Care Center at Cincinnati Children's.

Specialized therapies and surgeries can be used to treat and correct anomalies and complications of FA, such as:

  • Heart surgery to correct heart defects
  • Orthopaedic surgery to correct anomalies of the hands, fingers and skeletal system
  • Therapies for gastrointestinal (GI), kidney or other problems associated with the condition
  • Hormonal therapy to treat growth deficiency, thyroid conditions and diabetes

Because this condition is rare, it is important to seek out FA treatment specialists. A nonprofit research organization, the Fanconi Anemia Research Foundation Inc., can provide treatment and testing resources as well as additional educational and emotional support.

Long-Term Outlook

There are therapies available to treat FA at different stages of the condition. Bone marrow transplantation (BMT) is essential if the aplastic becomes severe and can be a cure for blood problems associated with FA. Even after successful BMT, patients with FA are still at increased risk of developing squamous cell carcinoma and should be monitored regularly.

However, quality, comprehensive care is available. Since FA research is ongoing, clinical trials and emerging therapies offer greater hope to patients and their families.

Genetic counseling and educational and emotional support from the treatment team also helps patients and families understand and cope with the condition.

Resources for Fanconi Anemia

To learn more about Fanconi anemia and blood marrow transplantation:

Last Updated 01/2020