Fanconi anemia is a rare inherited condition that can cause bone marrow failure, physical abnormalities, and an increased risk of some cancers. Symptoms include tiredness, infections, easy bruising, and more.

Fanconi anemia is a genetic condition. Symptoms typically develop during childhood, though some people do not receive a diagnosis until adulthood.

It is important to note that Faconi is different fron Fanconi syndrome. Fanconi syndrome is a rare condition affecting the kidneys.

Read on to learn more about the symptoms of Fanconi anemia, what causes it, what treatments may help, and more.

The most common symptoms of Fanconi anemia include:

The most common symptoms are due to low levels of white blood cells, red blood cells, or platelets.

According to Boston Children’s Hospital, around 75% of children with Fanconi anemia will also experience one or more of the following symptoms:

  • light brown birthmarks, known as Café au lait spots
  • low birth weight
  • short stature
  • small eyes or head
  • misshapen, missing, or extra thumbs
  • missing or incompletely developed forearm bone
  • abnormalities affecting the:
    • gastrointestinal tract
    • heart
    • central nervous system
    • kidneys
    • genitals

In some cases, doctors may only detect Fanconi anemia after a child has symptoms or a diagnosis of leukemia or myelodysplasia.

Fanconi anemia is a genetic condition. In most cases, a person inherits it in an autosomal recessive manner. This means that they inherit one copy of the abnormal gene from each parent.

If both parents carry the gene, there is a 25% chance that the child will receive both genes. If they receive both genes, this causes Fanconi anemia.

If a person only inherits one copy of the gene, they will be a carrier of the gene. This means that they will not have any symptoms, but they can pass the gene on to any children they have.

Fanconi anemia can happen due to mutations in the following genes:

  • BRCA2
  • BRIP1
  • FANCB
  • FANCD2
  • FANCE
  • FANCF
  • FANCI
  • ERCC4
  • FANCL
  • FANCM
  • PALB2
  • RAD51C
  • SLX4
  • UBE2T

Variants in one of three genes are responsible for 80% to 90% of Fanconi anemia cases. These include FANCA, FANCC, and FANCG.

Fanconi anemia occurs in anywhere from 1 in 100,000 to 1 in 160,000 births.

It is more common among:

  • people of Ashkenazi Jewish descent
  • the Roma population of Spain
  • Black South Africans
  • the Japanese population

Diagnosis typically happens between the ages of 10 and 15 years. However, around 10% of people with Fanconi anemia receive a diagnosis in adulthood.

Diagnosis can also occur at any time from birth.

To assist with reaching an accurate diagnosis, a doctor may begin by performing a physical examination and taking a full medical history. If they suspect Fanconi anemia, they will also ask about family medical history.

They will then order various tests. The main test for Fanconi anemia is a chromosome breakage test. It involves testing blood cells to see if the cells show chromosome breakage, an indicator of Fanconi anemia.

Other tests a doctor may order include:

  • blood tests to assess levels of white blood cells, red blood cells, and platelets
  • X-ray to look for structural abnormalities and skeletal malformations
  • molecular genetic testing to identify gene changes

In many cases, doctors will only test for the condition when symptoms develop. However, they will likely test for Fanconi anemia at birth if a baby is born with thumb or arm abnormalities that could indicate the condition.

Doctors may also test for Fanconi anemia if a person has any of the following:

This is particularly important as some treatments for these conditions may not be suitable for people with Fanconi anemia.

After diagnosis

After diagnosis, a doctor will likely order a range of tests to better understand how severe the Fanconi anemia is.

These tests can include:

  • developmental assessments
  • blood tests
  • ultrasounds of the urinary tract and kidneys
  • hearing tests

The individual may also receive referrals to other medical professionals for further tests and support.

Treatments for Fanconi anemia can depend on factors such as:

  • the age of the individual
  • the individual’s overall health
  • the severity of the condition
  • what symptoms they are experiencing

Some treatments include:

  • Androgen therapy: Androgen hormone therapy can help improve the blood count in around 50% of cases. It involves taking the oral medication daily.
  • Growth factors: Growth factors, such as G-CSF or GM-CSF, injectable treatments that can help with the production of white blood cells.
  • Stem cell transplant: Stem cell transplant involves replacing the stem cells with healthy stem cells to cure blood defects. It is not suitable for everybody.

Fanconi anemia increases the risk of certain cancers. Around 10% to 30% of people with Fanconi anemia will develop one of the following types of cancer:

If a person receives a Fanconi anemia diagnosis, they can work with their doctor to monitor for signs of cancer.

According to Boston Children’s Hospital, the average life expectancy for an individual with Fanconi anemia is 20 to 30 years.

If a baby is born with many birth defects, there is an increased risk of early onset severe aplastic anemia.

Factors that significantly affect life expectancy include:

  • bone marrow failure
  • solid tumors
  • leukemia

It is important to note that the outlook for Fanconi anemia will be different for each person. A person’s doctor can provide more accurate information about their outlook based on their individual circumstances.

Fanconi anemia is a rare genetic condition that can happen when a person receives two copies of a gene mutation, one from each parent. The condition can cause physical abnormalities, bone marrow failure, and an increased risk of cancer.

Symptoms of Fanconi anemia include extreme tiredness, frequent infections, easy bruising, and nose or gum bleeding. Diagnosis is more likely to occur in childhood, but in some cases a person might receive a diagnosis of Fanconi anemia in adulthood.

Possible treatments for Fanconi anemia include oral androgen hormone therapy, injectable growth factors, and stem cell transplant.

Doctors may test for Fanconi anemia at birth if a baby is born with thumb or forearm abnormalities. In other cases, they may order tests such as blood tests and genetic testing once an individual experiences symptoms of the condition.

Following diagnosis, the doctor can advise on suitable treatments and provide information about the person’s outlook based on their individual circumstances.