Fanconi Anemia, Group A (FANCA)
Fanconi anemia, group A is an autosomal recessive disease caused by pathogenic variants in the gene FANCA. While it has been detected in multiple ethnicities, it is most prevalent Sephardic Jewish individuals from northern Africa, as well as the Roma population in Spain. Clinical features include bone marrow failure and anemia due to a lack of neutrophils, platelets, and red and white blood cells. Some patients also have developmental problems of the kidneys, including missing or malformed kidneys, and/or skeletal abnormalities of the thumbs and radius. Patients also have an increased incidence of cancer. Due to bone marrow failure and the increased risk of malignancy, the life expectancy for a patient with Fanconi anemia is 29 years old, although some patients survive longer. Patients with two null variants are more likely to have an earlier onset of anemia and a higher risk of leukemia than patients carrying at least one allele with residual protein function.
For information about carrier frequency and residual risk, please see the residual risk table.