Fanconi anemia (FANCC gene)

Fanconi anemia (FA) is an inherited disorder in which the bone marrow does not produce enough blood cells. FA affects one in 100,000 births and is caused by pathogenic variants in up to 22 genes involved in DNA repair, the most frequently affected gene being FANCA followed by FANCC.

The first signs of FA are congenital malformations that may be obvious or go unnoticed and affect the skeleton (e.g. dysplasia of the thumbs and radii), the skin, and the urogenital, cardiopulmonary, gastrointestinal and central nervous systems. Minor anomalies such as low weight and height, microcephaly and small eyes may also occur.

Pancytopenia or lower than normal number of red blood cells, white blood cells and platelets in the blood. Decreased white blood cells can cause patients to have recurrent infections. Decreased red blood cells lead to anemia and decreased platelets increase the risk of bleeding.

Most patients develop bone marrow failure before the age of 40. They may develop acute myeloid leukemia, often preceded by myelodysplastic syndrome. There is an increased risk of developing solid tumors in the head, neck or anogenital region. Patients often have fertility problems.

Available treatments are aimed at improving the symptomatology of FA and include the administration of androgens to improve blood parameters and the use of G-CSF, a drug that helps the bone marrow to produce more white blood cells and thus prevent infections. In some cases hematopoietic stem cell transplantation may be performed.

Periodic evaluation for possible hematologic malignancies and screening for solid tumors is recommended.