Most Loved Workplace® Certified JobTax Associate, Business Incentives Group - Summer 2027
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Fanconi anemia (FA) is a rare genetic disease caused by mutations in any of the known 23 genes that play a role in the FA DNA repair pathway. Dysfunctional DNA repair in all cells of the body means that people living with FA have a very high risk of developing bone marrow failure and cancer in addition to many other systemic issues. FA affects both males and females equally and is found in all ethnic groups. FA is typically diagnosed before children are 12 years old, but in some cases, no symptoms are present until adulthood. People with FA are usually smaller than average, may feel extreme fatigue, and have frequent infections. Nosebleeds or easy bruising may be a first sign of the disease. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. FA may affect multiple systems of the body, including hematologic issues, endocrine disorders, arms and hand abnormalities, gynecological and/or dermatological issues, difficulties with nutrition and/or hearing, and increased risk of solid tumors, especially of the head and neck. Comprehensive FA care clinics host interdisciplinary teams that have experience with treating all aspects of the disease.
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Requirements
- FA is caused by a mutation in one of the 23 known FA genes.
- People with FA have an extremely high risk of developing several types of cancer at a young age.
- FA affects both males and females equally and is found in all ethnic groups.
- FA may be evident at birth through physical manifestations such as hand and arm anomalies, skeletal anomalies, and skin discoloration.
- FA may cause low birth weight, developmental disabilities, and defects in tissues separating chambers of the heart.
- Bone marrow failure is a common and serious complication of FA.
- Patients may require regular blood transfusions and allogeneic hematopoietic stem cell transplants to treat bone marrow failure.
- FA is typically diagnosed before children are 12 years old, but sometimes there are no symptoms until adulthood.
- Nosebleeds or easy bruising may be a first sign of the disease, and blood tests can reveal abnormalities.
- Comprehensive care clinics specific to FA are recommended for patients whenever possible.
- FA may affect multiple systems of the body, and treatment may involve addressing issues such as hematologic, endocrine, and gynecological or dermatological problems, as well as hearing difficulties and increased risk of solid tumors.
Benefits
- Comprehensive FA care clinics host interdisciplinary teams that have experience with treating all aspects of the disease.
- A cell transplant is the standard of care treatment option for bone marrow failure.
- Research is underway to develop treatments for cancer, prevention and early detection are key to positive outcomes.
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