Fanconi anemia is a genetic disease that affects DNA repair enzymes and predisposes to cancer.
In Fanconi anemia, key components of the blood (red blood cells, white blood cells and platelets) fail to be produced and the body’s ability to deliver oxygen, fight infection and form blood clots is weakened. Treatment is aimed at correcting the symptoms associated with this condition such as bone marrow failure, skeletal abnormalities, aplastic anemia, solid tumors and leukemia.
Many sufferers of the condition develop acute myeloid leukemia (AML) and older patients are very likely to develop solid tumors including head and neck cancer, esophageal cancer, gastrointestinal cancer and vulva and anal cancers. In cases of successful bone marrow transplant that has cured aplastic anemia and led to healthy blood counts, patients must still be monitored for signs of cancer.
Some of the therapeutic approaches taken in cases of Fanconi anemia are described below:
Fanconi anemia is inherited in an autosomal recessive pattern and 16 genes have been linked to the condition. As the carrier rate among Ashkenazi Jews, is around 1 in 90, these individuals are offered genetic testing and counselling if there are any carriers of the condition in their family.
Around half of patients are responsive to androgen therapy, which boosts production of red blood cells, platelets and sometimes white blood cells. However, the treatment eventually fails, at which point a bone marrow transplant may need to be considered.
Blood cell production can also be stimulated using growth factors. Granulocyte colony-stimulating factor (G-CSF) promotes the production of white blood cells, for example.
Blood and platelet transfusions may be given to replenish the diminishing number of blood cells.
Bone marrow transplant
Bone marrow transplant is currently the only long-term solution to treating Fanconi anemia. However, the procedure is high risk and associated with higher rates of graft-versus-host disease and glucose intolerance compared with other forms of transplant.
Reviewed by Sally Robertson, BSc