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Fanconi's anemia   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Anemia - Fanconi's; FA

Definition:

Fanconi's anemia is an inherited disease that primarily affects the bone marrow, resulting in decreased production of all types of blood cells. The lack of white blood cells predisposes the patient to infections, while the lack of platelets and red blood cells may result in bleeding, and fatigue (anemia), respectively. It is also associated with a broad variety of physical anomalies.

Fanconi's anemia is distinct from Fanconi's syndrome, a rare kidney disorder in which nutrients are lost through the urine.

Causes and Risks

Fanconi's anemia is inherited in an autosomal recessive fashion, thus one copy of an abnormal gene is passed on by each parent. It occurs in all racial and ethnic groups. It is classically diagnosed between 2 and 15 years of age.

The disease is caused by a genetic defect that prevents cells from fixing damaged DNA or removing toxic, oxygen-free radicals that damage cells. Patients may be suspected of having the disease, if they have particular birth defects or develop decreased blood counts.

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