What is Fanconi Anemia: Causes, Symptoms, Treatment, Prognosis, Life Expectancy, Diagnosis

Fanconi anemia (FA) is a type of genetic disorder which results in failure of the bone marrow. The function of the bone marrow is production of three different types of blood cells in the body, which include red blood cells, white blood cells and platelets. The red blood cells are responsible for transporting the oxygen to the organs and tissues. The white blood cells help in fighting infections. The function of the platelets is promoting blood clotting in order to stop bleeding. Normally the old blood cells die and are replaced by new ones by the bone marrow. If the dead blood cells are not being replaced by the bone marrow, then the patient is said to have developed bone marrow failure. Fanconi anemia is a recessive gene disorder which means that both the parents should have the defective FA gene for the patient to develop Fanconi Anemia. Both men and women can have fanconi anemia. This condition is more commonly seen in certain racial and ethnic groups.

Fanconi Anemia is commonly diagnosed at birth or soon afterwards, as it interferes with the production of the blood cells by the bone marrow. When the patient does not have the required amount of blood cells, then the following signs & symptoms are experienced by the patient:

• A plastic anemia, which is characterized by listlessness, low energy levels due to decreased number of red blood cells, whose function is to carry oxygen to the tissues and blood. Symptoms of anemia include headaches, dizziness and inability to keep the hands and feet warm.
• Birth defects will be seen in patients with Fanconi Anemia, such as bone defects (particularly involving the arms and thumbs), ear and eye defects, skin discoloration, congenital heart defects and kidney problems.
• Developmental problems are seen in the patient which include: low birth weight, delayed growth, poor appetite, lesser than average height, lesser than normal head size and learning difficulties.

Adults diagnosed with fanconi anemia later in life will commonly experience an entirely different set of symptoms, which often affect the reproductive system or the sexual organs. Men suffering from fanconi anemia with experience fertility issues and also may have genitals, which are smaller than the normal size.

Symptoms of Fanconi Anemia in women are:

• Having delayed periods than normal.
• Having frequent miscarriages.
• Fertility problems.
• Premature menopause.
• Genitals, which are smaller than the normal size.

Fanconi anemia is a genetic disease, which occurs when two individuals having recessive gene pass it on to their children. The meaning of recessive gene is that it manifests only when it has been inherited from both the parents. Fanconi anemia is a complex genetic disease in which 19 different types of genes have been linked to it.

Anomalies in these 19 genes are responsible for about more than 90% of cases with fanconi anemia.

Having a family history of Fanconi Anemia increases the risk for developing it. Afrikaners and Ashkenazi Jews are more likely to carry the recessive gene and are more likely to have fanconi anemia.

• Investigating the family history is one of the initial steps in diagnosing Fanconi Anemia. As the cause of Fanconi Anemia is a recessive gene it is likely that the parents may not be aware of them being the carriers. Family history of illnesses, such as anemia, immune problems and digestive disorders is also investigated.
• There are different tests for genetic diagnosis of fanconi anemia. One of which is the chromosome breakage test, which is done using either blood or skin cells. A chemical is added to the cells and the chromosome of the cells is analyzed under the microscope. Patients with fanconi anemia will have a very distinctive breakage in their chromosomes.
• Flow cytometry or cytometric flow analysis help in analyzing the skin cells by adding chemicals to them. If there is a reaction in the cells to the chemicals, then it means that the patient has fanconi anemia.
• Mutation screening is a test, which uses a sample of the skin cell to check any defects present in the 19 genes, which are linked with fanconi anemia.

Females with a family history of Fanconi Anemia need to undergo genetic testing of the fetus, which can be done by chorionic villus sampling (CVS) and amniocentesis.

• Amniocentesis is a procedure where a sample of the amniotic fluid is removed from the amniotic sac by using a fine needle. Amniotic sac contains the unborn baby. The sample fluid is then sent to lab for testing for the presence of genes of fanconi anemia.
• Chorionic villus sampling is a procedure where tissue samples of the placenta are taken by inserting a tube through the vagina and cervix. These tissue samples are then sent to lab for testing for the presence of recessive fanconi anemia gene.
• Other tests such as chromosome breakage studies can also be done though chorionic villus sampling.

Fanconi anemia is a serious condition and has lifelong complications, which include:

• Anemia caused due to decreased red blood cell (RBC) count.
• Leukemia is a type of cancer which can develop in about 10% of patients suffering from fanconi anemia.
• Patients suffering from fanconi anemia can also develop cancerous tumors in their mouths.

Patient also has birth defects which are related to Fanconi anemia and they include:

• Defects of the eye.
• Skeletal or bone defects.
• Defects in the ear, resulting in children having fanconi anemia to be born deaf.
• Discoloration of the skin.
• Problems with kidney, such as a missing kidney.
• Congenital heart defects, commonly a ventricular septal defect, which is a defect or a hole in the lower wall which divides the right and left heart chambers.

Fanconi Anemia is a genetic disease and has no cure. Treatment aims at relieving the symptoms of Fanconi Anemia. Treatment for Fanconi Anemia depends on the severity of the condition and the age of the patient. Treatment comprises of short-term and long-term treatment methods.

• Patient needs to undergo regular blood count tests to check or follow the severity of fanconi anemia.
• Bone marrow tests are done on yearly basis.
• Antibiotics are prescribed if the patient with Fanconi Anemia is having any infection.
• Screening for cancer or tumor should be done on a regular basis.
• Blood transfusions can be done to increase the blood cell count in people with Fanconi Anemia.

The aim of long-term treatment for Fanconi Anemia is to improve the patient’s quality of life and to increase the life expectancy of the patient suffering from Fanconi Anemia. The long-term treatment for Fanconi Anemia consists of:

• Long-term production of blood cells can be increased by androgen therapy which involves the use of male hormones on a regular basis.
• Naturally occurring or man-made growth substances help the body in the production of blood cells.
• Surgery can be done in order to correct the birth defects, which occur in the thumbs, arms, hips, and other parts of the body.
• Blood and Marrow Stem Cell Transplantation. This procedure comprises of taking stem cells from a healthy donor and using them to replace the abnormal cells. The donor for stem cells is often a family member. The patient’s bone marrow is destroyed using chemotherapy or radiation; after which the healthy and new marrow cells are injected into the bone, so that they can grow there and produce normal and healthy blood and marrow cells.

Fanconi Anemia is a serious and life-threatening condition. Previously Fanconi Anemia used to have lower life expectancy (about 29 to 30 years of age), but due to improvements in the treatment by using blood and bone marrow stem cell transplantation, the life expectancy and the prognosis of Fanconi Anemia has gotten better.

Children born with fanconi anemia will have physical signs of FA at birth; however, some children having FA will not exhibit signs of fanconi anemia until later in life. About more than 60% of patients who are born with Fanconi Anemia will have at least one physical anomaly present. The average lifespan for patients diagnosed with Fanconi

Anemia is around 29-30 years. However there are some patients who can live into their 50s. Children suffering from fanconi anemia are often diagnosed with myelodysplastic syndrome and acute myeloid leukemia between the ages of 6 and 15.

When children with Fanconi Anemia grow into adults, their risk for developing cancer increases. This includes bone and oral cancers.

It is helpful for patients suffering from Fanconi Anemia to interact with support groups as fanconi anemia can be very challenging for both the patient as well as the family members.

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