Fanconi Anemia is an autosomal recessive disorder.
We all have FA genes.
Known mutations involved: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, and FANCM
Fanconi Anemia predisposes an individual to numerous types of cancer, including acute myeloid leukemia, breast cancer, squamous cell carcinoma of the head and neck, and cancers of the gynecological system, skin, esophagus, liver, and kidney
Common presentations of patients with Fanconi Anemia:
Bone marrow hypoplasia
Low Birth Weight
Absence of or malformity in hands and arms, for example the absence of a thumb or the presence of polydactyly
Presence of only one kidney or of a horseshoe kidney
Gene therapy to target this role of FA genes in individuals with FA gene mutations.
DEB and MMC tests
Diagnosis typically occurs before the age of twelve (Fanconi Anemia Research Fund, Inc., 2006).
MMC test is used to diagnose Fanconi Anemia at the University of Kentucky.
Subtyping via use of retroviruses needs to be incorporated into standard protocol when diagnosing a patient with Fanconi Anemia.
Retrovirus mediated gene transfer
Lentivirus mediated gene transfer
Risks of Gene Therapy
Retrovirus potential to stimulate oncogenes.
Lentivirus association with arthritis and encephalitis in goats, leukemia in cattle, anemia in horses, and immunodeficiency