Is Fanconi Anemia?
Fanconi anemia (FA) is a genetic disorder that ultimately leads
to bone marrow failure. Your bone marrow is responsible for making three
different types of blood cells in your body. These include red blood cells,
which bring oxygen to your tissues and organs, white blood cells, which fight
infections, and platelets, which promote blood clotting to stop bleeding.
It’s natural for your blood cells to die. If your bone
marrow isn’t replacing dead blood cells, you’ll develop bone marrow failure
FA is very serious and has lifelong complications, which can
Anemia is caused by a low red blood cell (RBC) count.
Birth defects connected to Fanconi anemia can include:
- bone or skeletal defects
- defects of the eye
- defects of the ear, which may cause children with
FA to be born deaf
- skin discoloration
- kidney problems, such as a missing kidney
- congenital heart defects, the most common of
which is a hole or defect in the lower wall that separates the left and right
chambers of the heart, or a ventricular septal defect
Up to 10 percent
of people with FA develop leukemia. People with FA may also develop cancerous
tumors in their mouths.
FA is a recessive gene disorder. This means your parents
both have to have the defective FA gene for you to develop FA.
Fanconi Anemia Research Fund estimates that one in every 181 people has the
defective gene. One out of every 131,000 children in the United States is born
with FA. This condition can occur in men and women, and it’s seen more often in
specific racial and ethnic groups.
of Fanconi Anemia
There are normally physical signs of this condition at
birth, but some children with FA don’t show signs of FA until later in life.
According to the Fanconi Anemia Research Fund, more
than 60 percent of patients born with FA have at least one physical
anomaly. The median lifespan for people with FA is 29 years, although some people
live into their 50s.
Children with FA are commonly diagnosed with acute myeloid
leukemia and myelodysplastic syndrome between the ages of 5 and 15.
When people with FA become adults, they’re at an increased
risk of developing a wide range of cancers, including oral and bone cancers.
Are the Symptoms of Fanconi Anemia?
FA is often diagnosed at birth or soon after because it
affects the way your bone marrow produces blood cells. When you don't have a
sufficient number of blood cells you’ll begin to experience the following:
Aplastic anemia is characterized by a lack of energy due to
low numbers of red blood cells, which help to oxygenate your blood. The
symptoms of anemia include dizziness, headaches, and an inability to keep your
hands and feet warm.
Certain types of birth defects will indicate that your
infant has FA, including:
- bone defects, especially involving the thumbs
- eye and ear defects
- skin discoloration
- kidney problems
- congenital heart defects
Developmental problems can include:
- low birth weight
- poor appetite
- delayed growth
- a smaller-than-normal height
- a smaller-than-normal head size
- intellectual disability
Symptoms in Adults
Adults who are diagnosed later in life will usually
experience a completely different set of symptoms. The symptoms in adults will
usually affect the sexual organs or the reproductive system. The symptoms in
- periods that occur later than normal
- fertility issues
- frequent miscarriages
- early menopause
- smaller-than-normal genitals
Men with FA may experience fertility issues and have
of Fanconi Anemia
FA is a genetic disease that occurs when two people with the
recessive gene have children. Recessive means that the gene only expresses
itself when it has been inherited from both parents. FA is a complicated
genetic disease. Nineteen different genes have been connected to FA. Abnormalities
in those 19 genes account for 95
percent of FA cases.
Risk Factors for Fanconi Anemia
Any child with a family history of FA is at risk for developing
the condition. However, Ashkenazi Jews and Afrikaners are much more likely than
others to carry the recessive gene. Ashkenazi Jews are people of Eastern
European Jewish descent, and Afrikaners are South Africans descended from
Dutchmen who colonized South Africa in the 17th century.
One of the initial steps of diagnosis is investigating your
family history. Since a recessive gene causes FA, parents might not be aware that
they’re carriers. Your doctor will look for a history of family illnesses such
as anemia, digestive disorders, and immune problems.
The methods used to conduct a genetic diagnosis of FA vary. A
chromosome breakage test can
be conducted using either skin cells or blood. A chemical will be combined with
the cells. The cells’ chromosomes are analyzed under the microscope. The
chromosomes of a person with FA will have very distinctive breakage.
analysis, or flow cytometry, will analyze skin cells by mixing them with
chemicals. If your cells react to the chemicals, it means that you likely have
Mutation screening consists
of using a skin cell sample to look for any defects in the 19 known genes
associated with FA.
for Fanconi Anemia Before Birth
Women who have a family history of FA should undergo genetic
testing of their unborn baby. This can be done through amniocentesis and
chorionic villus sampling (CVS).
In amniocentesis, a
doctor uses a needle to remove fluid from the amniotic sac that contains the
unborn baby. The fluid is tested for the presence of FA genes.
CVS involves inserting a tube through the vagina and cervix and
using the tube to take tissue samples of the placenta. The tissue samples are
then tested for the recessive FA gene. Chromosome breakage studies can also be
performed using CVS.
If your child tests positive for the FA gene, they’ll be
monitored for other signs of the condition. If your child is born with birth
defects, their doctor will confirm an FA diagnosis with genetic testing.
FA is a genetic disease, and there’s no cure available.
However, the symptoms of FA can be treated. Treatments for FA vary based on the
seriousness of the condition and the age of the person affected.
Addressing anemia and other symptoms is the main focus of FA
treatment. It’s useful to consider short-term and long-term treatment
Short-term treatment methods for FA can include:
- regular blood count checks to track the severity
of the condition
- a yearly bone marrow test
- cancer or tumor screening
- antibiotics for any infections
- blood transfusions to increase the blood cell
The goal of long-term treatment for FA is to improve quality
of life and extend the lifespan of people who have this condition. Androgen therapy uses male hormones on
an ongoing basis to increase the long-term production of blood cells. Man-made
or naturally occurring growth substances can help your body make more blood
cells. Surgery may be able to correct birth defects that occur in the arms,
thumbs, hips, and other body parts.
Blood and Marrow Stem Cell Transplants
During a blood and marrow stem cell transplant, stem cells
are taken from a healthy donor to replace the abnormal ones. The donor is
usually a family member. Your bone marrow is destroyed using radiation or
chemotherapy. Then, the new healthy marrow cells are injected into your bone,
where they’ll grow and produce normal, healthy marrow and blood cells.
Is the Long-Term Outlook for People with Fanconi Anemia?
FA is a serious, life-threatening disease. This condition
used to cause a lower life expectancy, but improvements in blood and bone
marrow stem cell transplants have increased the odds of a longer life.
People with this condition and parents of children with this
condition may find it helpful to meet with support groups. The disease can be a
challenge for both the person with FA and their family members.