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

Faten Talmoudi 1, 2 Olfa Kilani 2, 1 Wiem Ayed 2, 1 Nizar Ben Halim 1 Fethi Mellouli 3 Lamia Torjmane 4 Lamia Aissaoui 5 Yosra Ben Youssef 6 Lobna Kammoun 7 Tarek Ben Othmane 4 Mohamed Bejaoui 3 Neila Ben Romdhane 8 Moez Elloumi 7 Sondes Hadiji 7 Sofiene Hentati 2 Imene Chemkhi 2 Nabila Abidli 2 Helmi Guermani 2 Sonia Abdelhak 1 Ahlem Amouri 2, 1
1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 Département d'Histologie et de Cytogénétique - Institut Pasteur de Tunis
3 Department of Peadiatric Immuno-Haematology
4 Department of Haematology and Transplantation
5 Haematology Department
6 Haematology Department
7 Paediatric Department
8 Hôpital La Rabta [Tunis]
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.
keyword : Fanconi anemia Aplastic anemia Cytogenetics Mitomycin C Chromosomal breakage test
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Journal articles
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https://hal-riip.archives-ouvertes.fr/pasteur-00860878
Contributor : Institut Pasteur Tunis <>
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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