Fanconi Anemia Registry
Fanconi anemia (FA) is a rare inherited disorder characterized by progressive bone marrow failure, diverse congenital anomalies, and a predisposition to malignancy. There is phenotypic heterogeneity among patients with FA, which is attributable to mutations in at least 16 genes. The FA Registry was established to better understand the natural history of the disease and to define the genetic and environmental modifiers. The registry also endeavors to provide up-to-date information about FA for health care professionals, patients, and their families.
The principal investigators are Dr. Christian Kratz and Dr. Helmut Hanenberg. The registry is open to any clinician treating patients affected by FA.