Fanconi Anemia

Fanconi Anemia (FA) is a rare inherited bone marrow failure syndrome characterized by progressive decrease in all blood cell types (pancytopenia), physical abnormalities, and a significantly increased risk of cancer. It is one of the most common inherited bone marrow failure syndromes, affecting approximately 1 in 100,000-350,000 births.

About 75% of people with Fanconi anemia have physical abnormalities present at birth, including short stature, abnormalities of the thumbs or arms, skin pigmentation changes (café-au-lait spots), small head size, and malformations of the kidneys, heart, or other organs. However, some individuals have no obvious physical features, making diagnosis based on clinical features alone challenging.

Bone marrow failure typically develops during the first decade of life, leading to fatigue, frequent infections, and easy bruising or bleeding due to low red blood cell, white blood cell, and platelet counts. Individuals with FA have a dramatically increased risk of developing acute myeloid leukemia and solid tumors, particularly head and neck cancers and gynecologic cancers.

Fanconi anemia is caused by mutations in genes involved in DNA repair. The most common form is caused by mutations in the FANCC gene. The condition is usually inherited in an autosomal recessive pattern. Treatment may include blood transfusions, growth factors, and ultimately bone marrow transplantation. Genetic testing is essential for diagnosis and family planning.

NutraHacker examines the following gene related to Fanconi Anemia:

• FANCC

For more information about your own genetic profile as related to Fanconi Anemia, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.