What is fanconi anemia?

Low blood production: Fa is an inherited disorder of blood cell production. It usually develops slowly over years. The blood counts are abnormal, and this be treated with medications or bone marrow transplant. These patients will also have a tendency to develop certain cancers. Fa patients can be short and have skeletal abnormalities, commonly abnormal thumbs.

Fanconi Anemia is: Actually a collection of many distinct molecular abnormalities in dna damage/repair that lead to a common phenotype of bone marrow failure and elevated risk of cancers, particularly aml. Deb/mmc tests confirm diagnosis. There are 13 complementation groups, each representing a different mutation. 12 are autosomal recessive, 1 (fancb) is x-linked. Pts may have other congenital anomalies or none.