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Fanconi anaemia

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Term Definition
Fanconi anaemia

Fanconi anaemia (FA) is a rare, cancer-predisposing disorder manifested by:

  • A variable presence of congenital anomalies in up to 70% of cases (e.g., thumb and kidney abnormalities)
  • Progressive bone marrow failure in childhood usually leading to haematopoietic stem cell transplantation (80% chance)
  • A predisposition to acute myeloid leukaemia (10% chance), and in particular, oropharyngeal/anogenital squamous cell carcinoma in early adulthood (over 50% in post-bone marrow transplant survivors).

Definition from Fanconi Hope website: Fanconi anaemia

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