Fanconi anemia is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body to work normally. It can also cause your bone marrow, the sponge-like tissue inside your bones, to make abnormal blood cells.Fanconi anemia is an inherited disease caused by mutations in certain genes, known as FA genes.
Fanconi anemia can lead to serious complications such as bone marrow failure, which happens when the bone marrow stops making as many blood cells.
The most common test for Fanconi anemia is a blood test called a chromosomal breakage test.
Treatment for Fanconi anemia depends on your age and how well your bone marrow is making new blood cells.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination.
Among those affected, the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) .
FA is characterized by bone marrow failure, AML, solid tumors, and developmental abnormalities.