What is Fanconi Anemia?

Fanconi anemia is a genetic condition that affects DNA repair enzymes, which predisposes affected individuals to cancer.

The condition affects around 1 in 350,000 births and is more common among Ashkenazi Jews and Afrikaners. This condition was originally described in 1927 by Swiss pediatrician Guido Fanconi, after whom it is named.

Manifestation in children

Children with Fanconi anemia are typically of short stature due to skeletal abnormalities. They may also have dysmorphic or abnormal facial features. Children with this condition are more at risk of developing solid tumors, blood cancers (e.g. leukemia) and aplastic anemia or failure of the bone marrow to produce new blood cells.

Pathology and inheritance

Fanconi anemia is inherited in an autosomal recessive pattern and 16 genes have been linked to the condition. Of these, FANCB is the only exception to the condition being autosomal recessive, as this gene is found on the X chromosome.

Fanconi anemia is a rare disease that, currently, only about 1000 individuals are suffering from across the globe. 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.

In Franconi 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.