One of the initial steps of diagnosis is investigating your family history. Since FA is caused by a recessive gene, parents might not be aware they are carriers. Doctors will look for a history of family illnesses such as anemia, digestive disorders, and immune problems.

FA is present in a child upon birth, even if he or she is born with no visible symptoms. If symptoms are not there at birth, they will normally show up between the ages of 2 and 15.

The symptoms of FA can look like symptoms of other conditions, and since FA is a genetic condition, genetic testing is the only reliable form of diagnosis. If your doctor believes your child might have FA, he or she will likely perform some form of genetic testing.

The methods used to conduct a genetic diagnosis of FA vary. The chromosome breakage test can be conducted by gathering either skin cells or blood. A chemical will be combined with the cells. The cells’ chromosomes are analyzed under the microscope. If the chromosomes show distinctive breakage, this indicates that the patient has FA.

Cytometric flow analysis (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 15 known genes associated with FA.

Women who have a family history of FA should undergo genetic testing of their unborn baby. There are two ways to do this: amniocentesis and chorionic villus testing (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.

The chorionic villus sample (CVS) test 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 on CVS.

If your child tests positive for the FA gene, he or she will be monitored for other signs of the condition. If, for example, the child is born with birth defects, the doctor will confirm an FA diagnosis with genetic testing.

FA is often diagnosed at birth or soon after. There are four categories of major conditions that can indicate that your child is suffering with FA:

Bone Marrow Failure

One of the major functions of bone marrow is to create red and white blood cells, and platelets (a type of blood cell involved in blood clotting). When the bone marrow fails, blood cell production begins to fall, leading to aplastic anemia. In addition, you will be more prone to infections, and it will take you longer to recover. Insufficient amounts of platelets will result in bleeding and bruising more than normal.

Birth Defects

Certain types of birth defects will indicate that your infant has FA, including bone defects (thumb, arm), eye and ear defects, skin discoloration, kidney problems, and congenital heart defects.

Developmental Problems

These can include low birth weight, poor appetite, delayed growth, smaller than normal height, smaller than normal head size, and intellectual disability.

Symptoms in Adults

Adults who are diagnosed later in life will usually experience a completely different set of symptoms. Adult symptoms will usually affect the sexual organs or the reproductive system. Women will often have their periods later than normal, fertility issues, frequent miscarriages, early menopause, and smaller than normal genitals. In addition, men could experience fertility issues and have smaller than normal genitals.

FA is a genetic disease that is caused 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. Fifteen different genes have been connected to FA. According to the Fanconi Anemia Research Fund, abnormalities in those 15 genes account for 95 percent of FA cases (FARF).

Any child with a family history of FA is at risk for developing the condition. However, two ethnic groups are more likely than others to carry the recessive gene: Ashkenazi Jews and Afrikaners. 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.

1. Supportive

• blood count checks to track the severity of the condition
• a yearly bone marrow test
• cancer/tumor screening
• antibiotics for any infections
• blood transfusions to increase blood cell count
• growth factors

1. Definitive

BONE MARROW TRANSPLANT: Bone marrow transplant is the only curative option in FA. The preferred donor is matched sibling or matched related donor. Second best choice is matched unrelated donor (procured through various national & international registries) or a cord blood transplant. If none of this is possible then half matched BMT can also be considered. Bone marrow transplant decreases the risk of blood cancers in future.