Fanconi anemia

Alternate names

Fanconi pancytopenia; Fanconi's anemia

Definition

Fanconi anemia (FA) affects the way genetic information (DNA) is copied and repaired. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. People with FA have a decreased number of red blood cells, white blood cells, and platelets leading to anemia, frequent infections, and excessive bleeding.

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Epidemiology

It has been estimated that one in 100,000 to one in 250,000 people is born with Fanconi anemia. Fanconi anemia may be more common in certain ethnic groups.

Cause

• Most cases of Fanconi anemia occur when the FANCA, FANCC, or FANCG gene are not working correctly. In addition, there are at least nineteen other genes associated with Fanconi anemia.
• DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes not at all.
• Proteins produced from these genes are involved in a cell process known as the FA pathway.
• The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage.
• The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue.

Inheritance

Autosomal recessive inheritance, a 25% chance

• Fanconi anemia is most often inherited in an autosomal recessive pattern.
• Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes.

Signs and symptoms

Symptoms of Fanconi anemia may include:

• Shorter than average height
• Abnormal patches of skin color
• Abnormalities of the bones of the upper and lower limbs
• Small head size (microcephaly)
• Eye abnormalities
• Genitourinary tract malformation
• Hearing loss
• Structural heart defects
• Hormone abnormalities
• FA causes bone marrow failure that gets worse over time.
• This leads to low levels of red and white blood cells and platelets.
• Symptoms of bone marrow failure include anemia, infections, and excessive bleeding.
• As adults, people with FA have an increased risk of developing solid tumors and other specific types of cancer, especially myelodysplastic syndrome and acute myelogenous leukemia.

Diagnosis

• Fanconi anemia is diagnosed based on the symptoms, clinical exam, and laboratory testing to look for signs of bone marrow failure, which may include low levels of red blood cells, white blood cells, and platelets.
• In addition, genetic testing can be used to confirm the diagnosis.

Treatment

• Treatment of Fanconi anemia is focused on managing the symptoms.
• Some people with FA benefit from a hematopoietic stem cell transplant, which is considered curative for the symptoms of bone marrow failure.
• Other treatments include medications to help manage kidney and hormone problems, as well as increased surveillance for cancer.

Specialists who may be involved in the care of someone with Fanconi anemia include:

• Hematologist
• Oncologist
• Endocrinologist
• Immunologist
• Nephrologist
• Orthopedist
• Cardiologist
• Ophthalmologist
• Medical geneticist

NIH genetic and rare disease info

• NIH info on Fanconi anemia

Fanconi anemia is a rare disease.

Fanconi anemia Resources
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