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A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network
  1. José Antonio Casado1,
  2. Elsa Callén1,
  3. Ariana Jacome1,
  4. Paula Río1,
  5. Maria Castella1,
  6. Stephan Lobitz2,
  7. Teresa Ferro1,
  8. Arturo Muñoz1,
  9. Julián Sevilla1,
  10. Ángeles Cantalejo1,
  11. Elena Cela1,
  12. José Cervera1,
  13. Jesús Sánchez-Calero1,
  14. Isabel Badell1,
  15. Jesús Estella1,
  16. Ángeles Dasí1,
  17. Teresa Olivé1,
  18. Juan José Ortega1,
  19. Antonia Rodriguez-Villa1,
  20. María Tapia1,
  21. Antonio Molinés1,
  22. Luis Madero1,
  23. José C Segovia1,
  24. Kornelia Neveling3,
  25. Reinhard Kalb3,
  26. Detlev Schindler3,
  27. Helmut Hanenberg2,
  28. Jordi Surrallés1,
  29. Juan A Bueren1
  1. 1Spanish Fanconi Anemia Research Network and Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
  2. 2Department of Pediatric Oncology, Hematology and Immunology, Children’s Hospital, Düsseldorf, Germany
  3. 3Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
  1. Correspondence to:
 Dr J A Bueren
 Hematopoiesis and Gene Therapy Program, CIEMAT Avenida Complutense, No 22, 28040 Madrid, Spain; juan.bueren{at}


Background: Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials.

Objective: To determine the subtype of Fanconi anaemia patients in Spain, a Mediterranean country with a relatively high population (23%) of Fanconi anaemia patients belonging to the gypsy race.

Methods: Most patients could be subtyped by retroviral complementation approaches in peripheral blood T cells, although some mosaic patients were subtyped in cultured skin fibroblasts. Other approaches, mainly based on western blot analysis and generation of nuclear RAD51 and FANCJ foci, were required for the subtyping of a minor number of patients.

Results and conclusions: From a total of 125 patients included in the Registry of Fanconi Anaemia, samples from 102 patients were available for subtyping analyses. In 89 cases the subtype could be determined and in 8 cases exclusions of common complementation groups were made. Compared with other international studies, a skewed distribution of complementation groups was observed in Spain, where 80% of the families belonged to the Fanconi anaemia group A (FA-A) complementation group. The high proportion of gypsy patients, all of them FA-A, and the absence of patients with FA-C account for this characteristic distribution of complementation groups.

  • DEB, diepoxybutane
  • FBS, fetal bovine serum
  • LCL, lymphoblast cell line
  • MMC, mitomycin C
  • PBS, phophate-buffered saline
  • TBS, TRIS-buffered saline

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  • Published Online First 14 November 2006

  • Competing interests: None declared.