This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Fanconi anemia (FA) affects the way genetic information (DNA) is copied and repaired. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. People with FA have a decreased number of red blood cells, white blood cells, and platelets leading to anemia, frequent infections, and excessive bleeding. In addition, people with FA may have limb, kidney, eye, skin, and genitourinary tract abnormalities. FA occurs due to variations in one of at least 22 genes. It is usually inherited in an autosomal recessive pattern, but it may also be inherited in an autosomal dominant or X-linked recessive pattern. FA can be diagnosed based on the symptoms, clinical exam, laboratory testing. The diagnosis may be confirmed by genetic testing. Treatment is focused on managing the symptoms. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the blood problems associated with this condition.
For more information, visit GARD.