How I manage patients with Fanconi anaemia

Research output: Contribution to journalReview articlepeer-review


Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

Original languageEnglish
Pages (from-to)32-47
Number of pages16
JournalBritish Journal of Haematology
Issue number1
Publication statusPublished - Jul 2017


  • Abnormalities, Multiple
  • Clinical Decision-Making
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group Proteins
  • Histocompatibility
  • Histocompatibility Testing
  • Humans
  • Mutation
  • Stem Cell Transplantation
  • Tissue Donors
  • Journal Article
  • Review


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