Fanconi anemia

Autosomal Recessive congenital pancytopenia. Patients with Fanconi's Anemia rarely live beyond their teens or early twenties.

Clinical suspicion

Fanconi anemia may occur in any nationality and ethnic group, but one particular gene change is responsible for approximately 83% of cases of Fanconi anemia in Jews of Eastern European descent (Ashkenazi Jews).  This allows Ashkenazi Jews to be easily tested for Fanconi anemia.  Approximately one in 89 Ashkenazi Jews is a carrier of Fanconi anemia.

Fanconi Anemia usually reveals itself when children are between the ages of 3-12 years present with extreme fatigue, and frequent infections or recurrent nosebleeds and bruising.

Lab tests reveal normocytic anemia with neutropenia.

Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia may all be associated with the disease.

Diagnosis

Detection of the genetic defect located on chromosome 9 confirms the diagnosis. Prenatal diagnosis is possible through chorionic villus sampling (CVS) or amniocentesis, which are performed early in pregnancy.

Treatment

The treatment options available now are preventive, supportive and investigational. Preventive care includes avoiding infections and bleeding, while supportive care includes blood and platelet transfusions and antibiotics in case of infection. Several investigational options are under study.

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