Fanconi Anemia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Fanconi Anemia?
A hematologist, a doctor who treats blood diseases, usually leads care for Fanconi anemia. A geneticist, a doctor who treats inherited conditions, often helps too. Care may also need a team of other specialists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Fanconi anemia?
Fanconi anemia is a rare genetic condition. It causes bone marrow failure, physical differences, organ problems, and a higher risk of some cancers. Bone marrow is the soft tissue inside bones that makes new blood cells.
It is rare. It occurs in 1 in 100,000 to 160,000 people worldwide. It is not the same as Fanconi syndrome, a rare kidney function disorder.
Symptoms
Symptoms vary from person to person. Common problems include:
- Low blood counts from bone marrow failure. This can cause extreme tiredness, frequent infections, and clotting problems.
- Easy bruising after a small injury, and bleeding from the gums and nose.
- Short stature, because of growth problems before or after birth.
- Differences in the thumbs or forearms, or an unusually small head.
- Small or oddly shaped eyes, and kidney problems.
At least 60% of people with Fanconi anemia are born with at least one physical difference. Some people have no other signs. Blood problems often start between ages 6 and 8.
Fanconi anemia also raises the risk of acute myeloid leukemia, a cancer of blood-forming cells. People are also at risk of tumors of the liver, digestive system, genital tract, or head and neck. The chance of developing one of these cancers is between 10 and 30 percent.
Causes and who gets it
Changes in more than 20 genes can cause Fanconi anemia. These genes help repair damaged DNA, the body's genetic code. When the repair fails, DNA damage builds up. Fast-dividing cells, such as bone marrow cells, are very sensitive to this problem.
Fanconi anemia is usually inherited in an autosomal recessive pattern. This means both copies of the gene in each cell must have a change. The parents each carry one changed copy but typically do not show signs of the condition. When both parents are carriers, the chance of an affected child is 25% with each pregnancy.
How doctors diagnose it
Doctors use a careful exam, the patient's history, and special tests. The main test is a chromosome breakage test. Some blood cells are treated in a test tube with a chemical that damages DNA. Cells from people with Fanconi anemia show marked chromosome breakage.
Anyone with aplastic anemia should be tested for Fanconi anemia, at any age. Aplastic anemia means the bone marrow makes too few blood cells. Testing is also needed before a stem cell transplant or cancer treatment. Standard chemotherapy and radiation may be toxic to people with this condition.
Treatment
Treatment is aimed at the specific symptoms each person has. It may take a team of specialists, such as kidney doctors, heart doctors, eye doctors, and surgeons.
Options include:
- Stem cell transplant can cure the blood problems of Fanconi anemia. Donor stem cells can come from bone marrow, blood, or cord blood.
- Androgens, which are male hormones, improve blood counts in about half of people with Fanconi anemia.
- Androgen treatment raises the risk of liver tumors.
- A medicine called G-CSF may raise the count of neutrophils, a type of white blood cell.
Cancer treatment is harder because chemotherapy and radiation are more toxic in this condition. Care should come from centers experienced in treating Fanconi anemia. Some chemicals may raise the risk of chromosome breakage. They should be avoided when possible. They include tobacco smoke, formaldehyde, herbicides, and solvents such as gasoline or paint thinner. Genetic counseling is advised for patients and their families.
When to see a doctor
See a doctor for extreme tiredness, frequent infections, easy bruising, or bleeding from the gums or nose.
Call 911 or go to the emergency room if you have bleeding that will not stop, severe trouble breathing, or fainting.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This kind of doctor can do a first evaluation and order basic blood tests. They can also coordinate care with blood specialists and help with long-term follow-up.
Common questions
Is Fanconi anemia the same as Fanconi syndrome?
No, they are different conditions. Fanconi anemia affects the bone marrow and raises cancer risk. Fanconi syndrome is a rare kidney function disorder.
Can Fanconi anemia be treated?
Yes, treatment is directed toward the specific symptoms each person has. A stem cell transplant can cure the blood problems of the condition.
Is Fanconi anemia inherited?
Yes, it is usually passed down in families. Both parents must pass on a changed copy of the gene for a child to be affected. The risk for two carrier parents to have an affected child is 25% with each pregnancy.
Does Fanconi anemia raise the risk of cancer?
Yes, it raises the risk of acute myeloid leukemia and some other cancers. These include tumors of the head and neck, digestive system, and genital tract.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
