Bone marrow failure

Welcome back to Audioboards.

Today we're talking about Fanconi anemia, a rare inherited disorder that is important to recognize because it combines bone marrow failure, congenital abnormalities, and a very high risk of cancer.

The easiest way to remember Fanconi anemia is think defective DNA repair, bone marrow failure, congenital abnormalities, and increased malignancy risk.

Fanconi anemia is caused by inherited abnormalities in genes involved in the Fanconi DNA repair pathway.

This pathway normally helps repair DNA damage, especially DNA interstrand crosslinks.

When the pathway doesn't work properly, cells accumulate DNA damage.

Hematopoietic stem cells are particularly vulnerable, which is why patients commonly develop progressive bone marrow failure.

But because the DNA repair problem affects cells throughout the body, Fanconi anemia is really a multi-system disorder.