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Fanconi Anemia

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fanconi-anemia

What is Fanconi anemia?

Fanconi anemia is an inherited disease caused by changes (mutations) in certain genes, known as FA genes. Experts have found 23 different FA genes. The disease occurs when there is a change (mutation) in one of these 23 genes. Children inherit Fanconi anemia from their parents.

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  • Growth deficiency: low birth weight, prenatal and/or postnatal short stature.
  • Skeletal anomalies—the most common being no thumb or radius bone (one of the two bones in the forearm)
  • Abnormal skin pigmentation —dark or light-colored birthmarks.
  • Structural anomalies of the kidney and/or heart.

People with Fanconi anemia are more likely to develop several types of blood disorders and cancers. These may include leukemia, myelodysplastic syndrome, and cancer of the head, neck, or urinary system. Women with Fanconi anemia who become pregnant should be watched carefully by a specialist

Fanconi anemia is an inherited disease caused by changes (mutations) in certain genes, known as FA genes. Experts have found 23 different FA genes. The disease occurs when there is a change (mutation) in one of these 23 genes. Children inherit Fanconi anemia from their parents.

Children whose parents both carry the same faulty gene are at greatest risk of inheriting FA. Even if these children aren't born with FA, they're still at risk of being FA carriers. Children who have only one parent who carries a faulty FA gene also are at risk of being carriers.

You can't prevent Fanconi anemia (FA) because it's an inherited disease. If a child gets two copies of the same faulty FA gene, he or she will have the disease. If you're at high risk for FA and are planning to have children, you may want to consider genetic counseling.

How is it diagnosed?

How is it diagnosed?

BMT can cure blood problems related to Fanconi anemia. It also can get rid of the child's risk of getting myelodysplastic syndrome and leukemia related to Fanconi anemia. If those conditions have already developed, BMT can treat them. Bone marrow transplants for people with Fanconi anemia are complex and specialized.

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How is it treated?

Treatment for acute myeloid leukemia is vital. It varies with the patient and stage of the disease. Treatment options include

  • Transfusion support (example: blood and platelet transfusion)
  • White blood cell count support with a growth factor called granulocyte-colony stimulating factor (G-CSF).
  • Androgen, a type of male hormone. Androgen may increase the production of red blood cells and, often, platelets.

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