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Fanconi Anemia Treatment

Fanconi anemia is a rare and serious blood disorder. It is a type of bone marrow failure. Bone marrow makes blood cells. In Fanconi anemia, the bone marrow does not make enough blood cells or stops making them.

Fanconi anemia can also affect many of the body’s tissues and organs. Children with this disease have a higher risk of having other serious health conditions, including problems with the bones (especially thumbs), kidneys, or heart. Fanconi anemia can also lead to leukemia, a cancer of the blood.

Fanconi anemia is an inherited disorder. This means it is passed down through families. Children who have Fanconi anemia have a higher risk for birth defects.

Fanconi anemia is not the same as Fanconi syndrome. Fanconi syndrome affects the kidneys.

Fanconi anemia symptoms

Fanconi anemia usually appears before age 12. Early signs and symptoms may include:

  • Feeling tired
  • Shortness of breath
  • Pale skin
  • Feeling dizzy
  • Headaches
  • Chest pain
  • Frequent infections
  • Easy bruising
  • Nosebleeds

About 60% (6 in 10) of children with Fanconi anemia are born with at least one of the following:

  • Smaller-than-average body size
  • Short height
  • Delayed growth
  • Small head size
  • Extra, misshapen, underdeveloped, or missing body parts
  • Ear and eye defects
  • Kidney problems
  • Darker or lighter colored skin patches
  • Low birth weight
  • Poor appetite
  • Internal bleeding
  • Gastrointestinal problems (stomach and intestines)
  • Heart defects
  • Learning problems

Fanconi anemia diagnosis

Your child’s health care provider will do a medical exam and ask about your family health history. They will do several types of tests. 

Tests may include a complete blood count, a bone marrow test, and imaging such as MRI and ultrasound.  

Fanconi anemia treatment

Treating Fanconi anemia can include both short-term and long-term treatment strategies:

  • Short-term treatment watches the disease and controls symptoms. This includes:
    • Regular blood count checks
    • A bone marrow test each year
    • Screening for cancer, especially blood cancer, skin cancer, and head & neck cancers
    • Antibiotic treatment to fight infections
    • Blood transfusions to increase blood cell counts (red blood cells and platelets)
  • Long-term treatment focuses on quality of life.
    • Stem cell (bone marrow) transplant: Blood stem cells are taken from a healthy donor (often a family member) to replace the child’s abnormal stem cells.
    • Growth factors: Substances that help the body make more red and white blood cells.
    • Androgen therapy: Male hormones can help the body make more red blood cells and platelets.
    • Surgery: Surgery may help correct problems caused by birth defects.
    • Gene therapy: Researchers are looking for ways to fix genes that are causing problems.

Fanconi anemia prognosis

There is no known cure for Fanconi anemia. But treatment advances have improved survival rates. About 80% (8 in 10) people live to 18 years or older.

About 10% (1 in 10) of people with Fanconi anemia have leukemia during childhood. They are more likely to have cancerous solid tumors as adults. The risk increases as people get older.

Women who have Fanconi anemia are at a higher risk for tumors in their reproductive organs than women without Fanconi anemia.

Fanconi anemia care at St. Jude

St. Jude provides the highest quality of care for patients with Fanconi anemia:

  • St. Jude health care providers work with the child’s local health care providers to arrange lifelong care.
  • Our doctors are involved with the latest research studies on Fanconi anemia. Patients who qualify may take part. We hope these studies will help us better understand and treat this disease.
  • At St. Jude, we have created an environment where children can be children and families can be together.  
  • The nurse-to-patient ratio at St. Jude is about 1:3 in hematology and oncology and 1:1 in the Intensive Care Unit. 

Fanconi anemia clinical trials

St. Jude offers comprehensive surveillance and standard-of-care treatment in consultation with other providers who have expertise in Fanconi anemia.

Related trials

INSIGHT-HD: Investigating the Genetics of Blood Disorders

Study goal:

The main goal of this trial is to collect DNA from individuals with non-cancerous blood diseases and their family members. Researchers will use the DNA to study how genes cause and influence these diseases. All research data will be confidential.


Non-malignant blood diseases (non-therapeutic)

A statue of children running and holding hands

Seeking treatment at St. Jude

Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.

How to seek treatment

Contact the Physician / Patient Referral Office

Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local)  | Fax: 901-595-4011 | Email: | 24-hour pager: 1-800-349-4334


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