5 Facts you should know about

Fanconi anemia

Fanconi Anemia (FA) is a rare inherited genetic disorder characterized by bone marrow failure, congenital anomalies, and an increased risk of cancers, particularly hematological and solid tumors

It is a heterogeneous condition caused by mutations in genes involved in the repair of DNA damage, impacting the body's ability to maintain genomic stability

FA typically manifests in early childhood, presenting with symptoms like low blood cell counts (anemia, thrombocytopenia), physical abnormalities, and a predisposition to cancers at a young age

Diagnosis involves genetic testing to identify mutations in one of the FANC genes, complemented by clinical assessments, bone marrow evaluations, and monitoring for signs of cancer development

Treatment often involves supportive care, blood transfusions, hematopoietic stem cell transplantation for bone marrow failure, and close monitoring for the early detection and management of cancer

See our full disease profile

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