Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia.

Abstract : Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia.
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Submitted on : Wednesday, September 11, 2013 - 12:58:24 PM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

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Faten Talmoudi, Olfa Kilani, Wiem Ayed, Nizar Ben Halim, Fethi Mellouli, et al.. Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia.. Comptes Rendus Biologies, Elsevier Masson, 2013, 336 (1), pp.29-33. ⟨10.1016/j.crvi.2013.02.001⟩. ⟨pasteur-00860878⟩

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