What is Fanconi Anemia? Let's talk about this rare condition in simple terms.

Does your child feel tired and exhausted all the time? Does he or she look pale? Or are there any physical changes that are present from birth? Perhaps the cause of these things is a rare condition called Fanconi Anemia. Don't be scared when you hear this name, because it is a condition that not many people have heard of, is a bit complicated, and is also very rare. So today we will talk about this, what it is, what are the symptoms, and is there a treatment, all in a very simple way that you can understand.

Okay, let's first see what Fanconi anemia (FA) is?

Simply put, Fanconi Anemia (FA) is a rare genetic condition that primarily affects the bone marrow in our body.

Now you may be wondering what this bone marrow is. We call the soft, spongy part inside the large bones of our body bone marrow. It is like a blood factory in our body. The three main types of blood cells that our body needs , red blood cells, white blood cells, and platelets, are produced from this bone marrow.

However, the bone marrow of a person with FA is unable to make these blood cells properly. It is like the factory's production is disrupted. As a result, healthy blood cells are not produced in sufficient quantities. This condition can cause various health problems. Also, FA can affect not only the bone marrow, but also many other parts of the body.

How does FA affect the body?

The way this condition affects each person can vary, but in general, there are several main effects.

• Physical abnormalities: About 75% of children born with FA, or three out of four, have some form of physical abnormality. These can affect both appearance and internal organs.
• Bone Marrow Failure: About 90% of people with FA develop bone marrow failure. This means that the bone marrow is unable to make enough healthy blood cells. This can lead to other blood disorders, such as aplastic anemia and myelodysplastic syndrome (MDS) . MDS is considered a pre-leukemia.
• Increased risk of cancer: Between 10% and 30% of people with FA have an increased risk of developing certain types of cancer, such as leukemia. These cancers can also occur at a younger age than the average person.

Is Fanconi anemia a cancer?

This is a question that many people have. The simple answer is, no . FA is not cancer. It is a genetic disease.

However, because the body's ability to repair damaged cells is impaired in people with FA, they are at higher risk of developing cancer than others. In particular, they are more likely to develop cancers such as acute myeloid leukemia , skin cancer, and head and neck cancer.

What are the symptoms of this disease?

The symptoms of FA vary widely. Some people have symptoms that are visible at birth, while others may not experience any symptoms for years. Let's break these symptoms down into several categories.

1. Symptoms of Anemia

These symptoms appear when the body's red blood cells decrease.

• Constant fatigue: Feeling so tired and exhausted that you can't even do normal tasks.
• Pale skin: The skin appears pale due to lack of blood in the body.
• Shortness of breath: Feeling short of breath even after walking a little.
• Feeling like your heart is beating fast.
• Frequent headaches.

2. Symptoms of Bone Marrow Failure

This causes symptoms due to a decrease in red blood cells, white blood cells, and platelets.

• Frequent infections: Due to low white blood cells, the body's immune system is weakened, leading to frequent bacterial and fungal infections.
• Easy bleeding: Low platelet count impairs blood clotting. This can lead to bleeding from the gums and nose, bruising and bruising, and bleeding that does not stop even from minor injuries.

3. Symptoms of cancers that may be associated with FA

• MDS and AML: These conditions can cause extreme fatigue, easy bleeding and bruising, paleness, difficulty breathing, and severe infections.
• Squamous cell carcinoma: Rough bumps or non-healing lesions on the skin.

4. Characteristics associated with physical changes

These characteristics are often visible at birth. Not everyone has all of these characteristics, but they may have one or more.

Why is this happening? What is the reason?

The reason for this is a defect in our genes . Think of our body as a building built according to a complex plan. That plan is our genes. There are about 20 genes associated with FA. The main function of these genes is to protect and repair the cells of our body, especially DNA, from everyday damage.

A person with FA has a mutation in these genes. Therefore, the process of repairing the damage does not occur properly.

• This causes additional damage to DNA and cells begin to divide abnormally or die.
• Physical changes and a decrease in blood cell count occur when cells die abnormally.
• Cancers like leukemia occur when cells start to grow abnormally.

This is something that is inherited from parents to children. Two parents with the defective gene have a 25% (one in four) chance of having a child with FA.

How do doctors diagnose this disease?

Often, FA is suspected when other symptoms (for example, anemia, frequent infections) are examined, rather than being diagnosed directly. Only then are specific tests performed for this condition.

Here are some of the tests that are commonly performed:

There are also special genetic tests that are used to confirm this disease:

• Chromosome Breakage Test: This is the main test to diagnose FA. In this test, a chemical is added to blood cells and the chromosomes in those cells are measured to see how easily they break. The chromosomes in the cells of a person with FA break much more than in a normal person.
• Genetic Screening: This test is performed to identify the specific genetic defect that causes FA.

Can I find out if my baby has this condition during pregnancy?

Yes. If there is a family history of FA, your baby can be tested for the disease during pregnancy. This can be done using tests such as amniocentesis or chorionic villus sampling . You can talk to your doctor about this and find out more.

What are the treatments for this?

There is no cure for FA yet. However, there are effective treatments to control the symptoms and complications that arise from it. The treatment plan is determined by the patient's age, the nature of the symptoms, and their overall health.

Things to know about living with FA

A person with FA or a parent of a child with it must always be vigilant.

• Cancer risk: People with FA are at increased risk of cancer-causing substances like tobacco. Therefore , smoking and exposure to tobacco smoke should be completely avoided .
• Protecting your skin: Due to the high risk of skin cancer, it is very important to cover your skin well and use sunscreen when going out in the sun.
• Be careful of injuries: Due to the increased risk of bleeding, you need to be extra careful during activities that could cause injury.
• Regular medical check-ups: Even after a successful bone marrow transplant, the risk of cancer remains, so it is essential to have ongoing medical check-ups and follow-ups throughout your life. Be aware of any changes in your body (unusual bruising, bleeding, fatigue) and notify your doctor immediately if you notice any.

Living with this condition can be challenging, but your medical team will provide you with the guidance and support you need. So don't be afraid to talk to your doctor about any concerns you may have.

Fanconi Anemia, bone marrow, bone marrow failure, anemia, genetic diseases, cancer risk