What is Fanconi anaemia?

Fanconi anaemia is a rare inherited condition. In Fanconi anaemia, you have lower blood cells and skeletal and organ abnormalities. About half of people with Fanconi anaemia will develop acute myeloid leukaemia or myelodysplastic syndromes in early adulthood.

What causes Fanconi anaemia?

In Fanconi anaemia, the cell can’t protect its DNA from damage which can lead to cell death. This abnormal cell death can lead to reduced blood cells and cancers such as acute myeloid leukaemia. 

What are the symptoms of Fanconi anaemia?

Most people with Fanconi anaemia have some of these symptoms:

• Fatigue, pale skin, fast heartbeat, shortness of breath, and other anaemia symptoms. Anaemia symptoms occur due to low red blood cells
• Infection occurs due to low white blood cells that fight infection
• Excessive bleeding occurs due to low platelets that help to stop bleeding
• Abnormal heart, lungs, and digestive tract
• Bone problems (especially the hips, spine, or ribs) such as a curved spine (scoliosis)
• Changes in the colour of the skin, such as darkened areas of the skin, called café au lait spots, and loss of skin colour in patches called vitiligo
• Deafness due to abnormal ears
• Eye or eyelid problems
• Kidneys that did not form correctly
• Problems with the arms and hands, such as missing, extra, or misshapen thumbs, problems of the hands and the bone in the lower arm, and small or missing bone in the forearm
• Short height
• Small head
• Small testicles and genital changes
• Failure to thrive
• Learning disability
• Low birth weight
• Intellectual disability

How Fanconi anaemia is diagnosed?

Fanconi anaemia is commonly diagnosed between six and nine years of age after the symptoms appear. Late appearance age 16 years present with cancer. 

• Complete blood count (CBC) to see your blood cell numbers
• Reticulocyte counts to measure the number of immature red blood cells (reticulocytes) in your bone marrow. Your doctor measures reticulocytes to find out if your bone marrow is producing enough healthy red blood cells
• Basic metabolic panel (BMP). This test provides information about your body’s chemical balance and metabolism (how your body transforms the food you eat into energy)
• Bone marrow biopsy
• Magnetic resonance imaging (MRI). This test produces detailed images of your organs
• Ultrasound: This is an imaging test that uses sound waves to evaluate symptoms and health conditions

How Fanconi anaemia is treated?

• Synthetic Growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood counts for a short while by stimulating your bone marrow to make more red and white blood cells
• A bone marrow transplant can cure the blood count problems of Fanconi anaemia. (The best bone marrow donor is a brother or sister whose tissue type matches the person affected by Fanconi anaemia). Bone marrow is used also to treat leukaemia, pre-leukeamia, or bone marrow failure. People who have had a successful bone marrow transplant still need regular check-ups because of the risk of additional cancers
• Hormone therapy combined with low doses of steroids (such as hydrocortisone or prednisone) is prescribed to those who do not have a bone marrow donor. Most people respond to hormone therapy. But everyone with the disorder will quickly get worse when the medicines are stopped. In most cases, these medicines eventually stop working.
• Antibiotics are used to treat infections 
• Blood transfusions to treat symptoms due to low blood counts 
• Human papillomavirus and other vaccines

FAQs

Is Fanconi anaemia a cancer?

Fanconi anaemia isn’t a cancer but people who have FA are more likely to develop certain cancers, including acute myeloid leukaemia, skin cancer, cancer of the head and neck, and other parts of their bodies.

What are common cancers associated with Fanconi anaemia?

People with FA are more likely to develop some kind of cancer such as: 

• Myelodysplastic syndrome and acute myeloid leukemia (AML)
• Squamous cell carcinoma.

Will my children have Fanconi anaemia too?

There’s a 25% chance that you will have a child who develops Fanconi anaemia symptoms. And there’s a 25% chance that you won’t pass those abnormal genes on to their child.

I’m pregnant and have a family history of Fanconi anaemia. What tests show if the fetus has Fanconi anaemia?

• Amniocentesis: Your doctor examines your fetus's chromosomes from a fluid sample of the fluid-filled sac around the fetus
• Chorionic villus sampling: Your doctor will take a tissue sample from your placenta to look for signs of genetic changes related to Fanconi anaemia

How can I reduce my risk of developing Fanconi anaemia?

Fanconi anaemia is an inherited disorder. That means you can’t reduce your risk of developing Fanconi anaemia. However, not everyone who carries Fanconi anaemia genes develops the medical conditions. Likewise, not all people who carry Fanconi anaemia genes pass it on to their children. So genetic testing will help you to understand your situation.

Who can have Fanconi anaemia?

Fanconi anaemia occurs almost equally in males and females and is found in all ethnic groups. The incidence rate, or the likelihood of a child being born with Fanconi anaemia, is about 1 in 131,000 in the U.S., with approximately 31 babies born with Fanconi anaemia each year in the U.S.

How many FA genes are there? 

Fanconi anaemia is caused by about 23 different genes. Fanconi anaemia genes include the two genes that cause breast cancer, BRCA1 and BRCA2. The three most common Fanconi anaemia genes are FANCA, FANCC, and FANCG.

Summary

Fanconi anaemia is a rare inherited disorder that affects blood cell production and causes physical abnormalities. It increases the risk of developing cancers such as acute myeloid leukaemia and squamous cell carcinoma. Though it’s not preventable, early diagnosis and treatments like bone marrow transplants can help manage symptoms. Genetic testing is essential for families with a history of FA, as the condition is linked to mutations in about 23 different genes—including BRCA1 and BRCA2.