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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, success stories using clomid 2010 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.

Treatment outline

Some of the therapeutic approaches taken in cases of Fanconi anemia are described below:

Genetic counselling

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.

Androgen therapy

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.

Growth factors

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 transfusion

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.

Further Reading

• All Fanconi Anemia Content
• What is Fanconi Anemia?
• Fanconi Anemia Prognosis
• Fanconi Anemia Hematological Abnormalities
• Molecular Basis of Fanconi Anemia

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.