Fanconi Anemia: Causes, Symptoms and Diagnosis
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Fanconi Anemia

What 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 include:

Anemia

Anemia is caused by a low red blood cell (RBC) count.

Birth Defects

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

Cancer

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.

The 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.

Stages of Fanconi Anemia

 Type 1

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.

What Are the Symptoms of Fanconi Anemia?

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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

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.

Birth Defects

Certain types of birth defects will indicate that your infant has FA, including:

  • bone defects, especially involving the thumbs and arms
  • eye and ear defects
  • skin discoloration
  • kidney problems
  • congenital heart defects

Developmental Problems

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 women include:

  • 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 smaller-than-normal genitals.

Causes of Fanconi Anemia

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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

Risk Factors

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.

Diagnosing Fanconi Anemia

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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.

Cytometric flow 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 FA.

Mutation screening consists of using a skin cell sample to look for any defects in the 19 known genes associated with FA.

Screening for Fanconi Anemia Before Birth

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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.

Treating Fanconi Anemia

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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 strategies.

Short-Term Treatments

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 count

Long-Term Treatment

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.

What Is the Long-Term Outlook for People with Fanconi Anemia?

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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. 

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