Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia

Eur J Haematol. 2023 Aug;111(2):254-262. doi: 10.1111/ejh.13990. Epub 2023 May 16.


Background: FA patients are hypersensitive to preconditioning of bone marrow transplantation.

Objective: Assessment of the power of mitomycin C (MMC) test to assign FA patients.

Methods: We analysed 195 patients with hematological disorders using spontaneous and two types of chromosomal breakage tests (MMC and bleomycin). In case of presumed Ataxia telangiectasia (AT), patients' blood was irradiated in vitro to determine the radiosensitivity of the patients.

Results: Seven patients were diagnosed as having FA. The number of spontaneous chromosomal aberrations was significantly higher in FA patients than in aplastic anemia (AA) patients including chromatid breaks, exchanges, total aberrations, aberrant cells. MMC-induced ≥10 break/cell was 83.9 ± 11.4% in FA patients and 1.94 ± 0.41% in AA patients (p < .0001). The difference in bleomycin-induced breaks/cell was also significant: 2.01 ± 0.25 (FA) versus 1.30 ± 0.10 (AA) (p = .019). Seven patients showed increased radiation sensitivity. Both dicentric + ring, and total aberrations were significantly higher at 3 and 6 Gy compared to controls.

Conclusions: MMC and Bleomycin tests together proved to be more informative than MMC test alone for the diagnostic classification of AA patients, while in vitro irradiation tests could help detect radiosensitive-as such, individuals with AT.

Keywords: Fanconi anemia; aplastic anemia; bleomycin test; chromosomal breakage test; in vitro irradiation; mitomycin test.

MeSH terms

  • Anemia, Aplastic* / etiology
  • Anemia, Aplastic* / genetics
  • Bleomycin
  • Chromosome Breakage
  • Diagnosis, Differential
  • Fanconi Anemia* / complications
  • Fanconi Anemia* / diagnosis
  • Fanconi Anemia* / genetics
  • Humans
  • Mitomycin


  • Mitomycin
  • Bleomycin