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Fanconi anemia, or FA, is a rare, inherited blood disorder that leads to bone marrow failure. FA causes your bone marrow to stop making
enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems such as cancer.

FA is a blood disorder, but it also can affect many of your body’s organs, tissues, and systems. Children who inherit FA are at higher
risk of being born with birth defects. People with FA are at higher risk for some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects a person’s kidneys. It’s a rare and serious condition found mostly in children. Children with Fanconi syndrome pass high amounts of key nutrients and chemicals through their urine, which leads to serious
health and developmental problems.

Causes

Fanconi anemia (FA) is an inherited disease. “Inherited” means that the disease is passed from parents to children through abnormal genes. At least eleven genes can cause FA if they’re not normal. FA develops when both parents pass the same abnormal gene for FA to their child.

People who have only one abnormal FA gene are “carriers” of FA. Carriers don’t have FA, but they can pass the abnormal gene to their children. If both of your parents have an abnormal FA gene, you have:

• 25% chance of having FA
• 25% chance of not having GA
• 50% chance of being a carrier of FA and passing it on to one of your children

If only one of your parents has a defective FA gene, you won’t develop the disorder. However, there is a 50 percent chance that you will be a carrier and pass the gene to any children you have.

Fanconi Anemia Symptoms

• Anemia
• Bone Marrow Failure
• Birth defects
• Developmental or eating problems

Fanconi Anemia is diagnosed in a number of way, here are some tests that can be done to diagnose Fanconi Anemia:

• Chromosome breakage test
• Cytometric flow analysis
• Mutation screening

Fanconi Anemia Treatment

• Bone Marrow Transplant
• Androgen Therapy
• Synthetic Growth Factors
• Gene Therapy