Fanconi Anemia in Children
What is Fanconi anemia in children?
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.
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Red blood cells carry oxygen through the body.
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White blood cells help fight infection.
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Platelets help with clotting.
All these cells die after a certain amount of time. They constantly need to be replaced.
Fanconi anemia is a very rare genetic condition. That means it runs in families. It's
passed from parents to children. The condition can affect your child's whole body.
It can cause physical problems, failure of the bone marrow, and organ defects. It
also increases the chance of getting some cancers, especially of the blood (leukemia).
What causes Fanconi anemia in a child?
Defects in at least 15 genes have been linked to the disease.
Which children are at risk for Fanconi anemia?
People that have higher risk for Fanconi anemia include:
What are the symptoms of Fanconi anemia in a child?
Your child's symptoms may include:
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Bone marrow related symptoms.These may include severe tiredness (fatigue), frequent infections, and bleeding problems.
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Physical abnormalities.These may affect 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:
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Irregular skin coloring
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Shorter than normal
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Abnormal thumbs or forearms
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Increased fluid in the brain (hydrocephaly)
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A small head
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Abnormally shaped eyes or ears
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Kidney problems
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Heart problems that are present at birth (congenital heart defects)
How is Fanconi anemia diagnosed in a child?
Diagnosing Fanconi anemia is difficult, and confirming the diagnosis can be complicated.
because the signs of Fanconi anemia may be found in other conditions. About 1 in 4
babies don’t have physical signs. More tests may be done on a child with other health
problems. Your child's healthcare provider will refer you to a blood specialist called
a hematologist, or to a geneticist. These experts will have experience in diagnosing
Fanconi anemia. A diagnosis includes:
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Health history including past health problems and growth and development progress
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Physical exam
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Family history, including others with symptoms of Fanconi anemia and whether or not
the family is part of one of the high-risk groups
Your child may have tests such as:
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Hemoglobin and hematocrit. This is a blood test that measures the amount of hemoglobin (the part of red blood
cells that carries oxygen) and red blood cells in the blood.
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Complete blood count (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.
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Peripheral smear. A small sample of blood is checked under a microscope. Blood cells are checked to
see if they look normal or not.
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Blood tests of genes and chromosomes. Blood samples are taken and checked for abnormal genes and chromosomes. This is a
test called a chromosomal breakage assay.
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Bone marrow tests. Samples of bone marrow are taken and checked for decreased and abnormal blood cells.
How is Fanconi anemia treated in a child?
Treatment of Fanconi anemia may require many different medical specialists. Your child
will get treatment based on their symptoms. Stem cell transplants offer the only cure
for Fanconi anemia. Treatment may also include:
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Blood transfusions. This is done for low blood counts.
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Medicines. This is done for low blood counts, infections, and other problems.
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Surgery.This may be done to correct malformed bones, for instance.
What are possible complications of Fanconi anemia in a child?
Fanconi anemia may lead to:
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Delayed growth or development
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Certain cancers, such as leukemia, cancers of the head and neck, and cancers of the
female reproductive system
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Trouble getting pregnant (female and male infertility)
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Hearing loss
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Anemia, low red blood cell counts
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Infections
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Bleeding problems
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Gastrointestinal system and nutrition problems
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Blood sugar (glucose) and insulin problems
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Decreased life span
How can I help my child live with Fanconi anemia?
Your child will be watched very closely. They'll have:
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Frequent physical exams and lab and other diagnostic tests
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More frequent screenings for cancer
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Genetic counseling, for you, your child, and other brothers and sisters. This is very
important before any pregnancy.
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Special safety steps to take with medicines and diagnostic tests or treatments with
X-ray or radiation
Fanconi anemia is a lifelong disease that can be life-threatening. Work with your
child’s healthcare provider to create a treatment plan for your child that can help
them live as normal a life as possible. To do this:
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Work closely with your child’s school so that your child gets what's needed. Your
child may qualify for special programs under Section 504 of the Rehabilitation Act
of 1973.
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You and your family may get counseling or attend support groups. This can help you
deal with a life-threatening disease.
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Think about working with a social worker to get support, including financial support.
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Remember to also pay attention to other children in the family.
When should I call my child's healthcare provider?
You know your child better than anyone else. If you're in doubt or if you have questions
or concerns, contact your child’s provider.
Also, work closely with your child's provider to know what to report. It depends on
your child's age, treatment, and other factors. For instance, 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 in children
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Fanconi anemia is a very rare genetic condition.
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A child with this condition may have physical abnormalities, bone marrow failure,
organ defects, and a higher chance of developing some cancers.
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Treatment may require many different medical specialists.
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Stem cell transplants offer the only cure for Fanconi anemia.
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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 healthcare provider:
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Know the reason for the visit and what you want to happen.
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Before your visit, write down questions you want answered.
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At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
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Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
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Ask if your child’s condition can be treated in other ways.
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Know why a test or procedure is recommended and what the results could mean.
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Know what to expect if your child does not take the medicine or have the test or procedure.
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If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
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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.