Fanconi Anemia

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Genetics

Fanconi Anemia (FA) is inherited. People develop FA disease when they have two copies of the same FA gene. This happens when both parents pass the same faulty gene to their child. In most cases, the parents are “carriers’ meaning they only have one copy of the faulty gene (and therefore don’t have signs of FA disease themselves).

At least 15 Fanconi anemia genes (known as “complementation groups”) have been identified in FA patients. A mutation in any one of those 15 genes leads to the disease. The complementation groups have been assigned letter designations, (such as A, B, C, D1, D2, E, F, G, etc). Most FA patients have mutations in the A, C, or G complementation groups—and about two thirds of all FA patients have the group A mutation.

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