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Fanconi Anemia

Fanconi Anemia

What is Fanconi anemia?

Fanconi anemia is a blood disorder. With this condition, the bone marrow doesn't make enough blood cells. Or it makes defective blood cells.

Bone marrow is the spongy material inside bones. It makes white and red blood cells, and platelets.

  • Red blood cells carry oxygen through the body.
  • White blood cells help fight infection.
  • Platelets help with clotting.

All these cells die after a certain amount of time and constantly need to be replaced.

Fanconi anemia is a very rare genetic condition. That means it runs in families—it is passed from generation to generation. The condition can affect your child's whole body. It can cause physical abnormalities, failure of the bone marrow, and organ defects. It also increases the chance of getting some cancers, especially of the blood or leukemia. 

What causes Fanconi anemia?

Defects in at least 15 genes have been linked to the disease.

Who is at risk for Fanconi anemia?

Groups that have higher risk for Fanconi anemia:

  • Ashkenazi or Eastern European Jews
  • Afrikaners or black South Africans
  • Romanis from Spain

What are the symptoms of Fanconi anemia?

Your child's symptoms may include the following:

  • Bone-marrow related. Tiredness or fatigue, frequent infections, bleeding problems.
  • Physical abnormalities. These may involve the skin, bones, kidneys, gastrointestinal system, brain, spinal cord, eyes, ears, and the reproductive systems.

As an infant, your child may have many signs including:

  • Irregular skin coloring
  • Short stature (length less than usual)
  • Abnormal thumbs or forearms
  • Hydrocephaly
  • Increased fluid in the brain
  • A small head 
  • Abnormally shaped eyes or ears
  • Kidney problems

How is Fanconi anemia diagnosed?

Diagnosing Fanconi anemia is difficult. There is not a specific test for it. And, the signs may be found in other conditions. Further testing is done on infants with physical signs (for example, abnormally developed thumbs). But, about 25% of infants do not have physical signs. More tests may be done on a child with other health problems. Your child's health care provider will refer you to a blood specialist called a hematologist, or a geneticist. These experts will have experience in diagnosing Fanconi anemia. A diagnosis includes:

  • Medical history including previous health  problems and growth and development
  • Physical exam
  • Family history, including others with signs and symptoms of Fanconi anemia and whether or not the family is part of one of the high-risk groups

Other tests include:

  • General blood tests
    • Hemoglobin and hematocrit. It measures the amount of hemoglobin (the part of red blood cells that carries oxygen) and red blood cells in the blood.
    • Complete blood count, or CBC. A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells (reticulocytes). It includes hemoglobin and hematocrit and more details about the red blood cells.
    • Peripheral smear. A small sample of blood is examined under a microscope. Blood cells are checked to see if they look normal or not.
  • Blood tests of genes and chromosomes. Blood samples are taken and checked for abnormal genes and chromosomes.
  • Bone marrow tests. Samples of bone marrow are taken and checked for decreased and abnormal blood cells.

How is Fanconi anemia treated?

Treatment of Fanconi anemia may require many different medical specialists. Your child will get treatment based on his or her signs and symptoms. Stem cell transplants offer the only cure for Fanconi anemia. Treatment may also include:

  • Blood transfusions. For low blood counts
  • Medications. For low blood counts, infections, and other problems.
  • Surgeries. To correct malformed bones, for example. 

What are the complications of Fanconi anemia?

Fanconi anemia may lead to:

  • Delayed growth or development
  • Certain cancers, such as leukemias, cancers of the head and neck, and cancers of the female reproductive system
  • Female and male infertility (trouble getting pregnant)
  • Hearing loss
  • Anemias, low red blood cell counts
  • Infections
  • Bleeding problems
  • Gastrointestinal system and nutrition problems
  • Blood sugar (glucose) and insulin problems
  • Death

How is Fanconi anemia managed?

Your child will be watched very closely. He or she will have:

  • Frequent physical exams and lab and other diagnostic tests
  • More frequent screenings for cancer
  • Genetic counseling, for you, your child, and other brothers and sisters. This is very important before any pregnancy
  • Special precautions with medications and diagnostic tests or treatments with X-ray or radiation

Fanconi anemia is a life-long disease that can be life threatening. Work with your health care provider to develop a treatment plan for your child that can help him or her live as normal life as possible.  To do this:

  • Remember to also pay attention to other children in the family. 
  • Work closely with your child’s school so that he or she gets what is needed. Your child may qualify for special programs under Section 504 of the Rehabilitation Act of 1973. 
  • You and your family may get counseling or attend support groups.This can help you deal with a life-threatening disease. 
  • Think about working with a social worker to get support, including financial support.  

When should I call my child's healthcare provider?

You know your child better than anyone else. If you are in doubt or if you have questions or concerns, contact his or her provider.

Also, work closely with your child's healthcare providers to know what to report. It depends on your child's age, treatment and other factors. For example, your child's provider will tell you what to watch for if your child has had a stem cell transplant. Or if your child is taking a certain medicine, the provider will tell you what side effects may occur. 

Key points about Fanconi anemia

  • Fanconi anemia is a very rare genetic condition.
  • A child with Fanconi anemia may have physical abnormalities, failure of the bone marrow, organ defects, and an increased chance of developing some cancers.
  • Treatment of Fanconi anemia may require many different medical specialists. 
  • Stem cell transplants offer the only cure for Fanconi anemia.
  • Close monitoring, frequent exams, including cancer screenings, and genetic counseling are important parts of care.

Next steps

Tips to help you get the most from a visit to your child’s health care provider:
  • Before your visit, write down questions you want answered.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.
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