Fanconi anemia
Pronunciation: fan-KOH-nee
Also written as: FA — Fanconi anemia
A rare inherited bone marrow failure syndrome characterized by progressive pancytopenia, physical abnormalities, and increased cancer risk.
Full Definition
Fanconi anemia is a rare autosomal recessive disorder caused by mutations in genes involved in DNA repair pathways. Patients typically present with bone marrow failure leading to pancytopenia, along with characteristic physical features such as short stature, skin pigmentation changes, thumb abnormalities, and other congenital malformations. There is a significantly increased risk of malignancies, particularly acute myeloid leukemia and solid tumors. Diagnosis is confirmed by chromosomal breakage studies using mitomycin C or diepoxybutane. Treatment focuses on supportive care and hematopoietic stem cell transplantation, with careful monitoring for malignancy development throughout life.
Usage
Usage note: Do not confuse with Fanconi syndrome, which is a kidney disorder.
In Context
- "Chromosomal breakage analysis confirmed the diagnosis of Fanconi anemia in this child with pancytopenia and thumb abnormalities." — genetics laboratory report
- "Patients with Fanconi anemia require lifelong monitoring for the development of malignancies." — hematology consultation note