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Journal articles
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
Lobna Kammoun 7
Author
Tarek Ben Othmane 4
Author
Mohamed Bejaoui 3
Author
Neila Ben Romdhane 8
Author
1
LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (BP 74, 13 Place Pasteur, Tunis 1002 - Tunisia)
- UTM - Université de Tunis El Manar (Campus Universitaire Farhat Hached B.P. n° 94 - ROMMANA 1068 Tunis - Tunisia)
- Institut Pasteur de Tunis (13, place Pasteur, BP 74, 1002 Tunis Belvédère - Tunisia)
- RIIP - Réseau International des Instituts Pasteur (25, rue du Dr Roux 75724 Paris Cedex 15 - France)
2
Département d'Histologie et de Cytogénétique - Institut Pasteur de Tunis (Tunisia)
- Institut Pasteur de Tunis (13, place Pasteur, BP 74, 1002 Tunis Belvédère - Tunisia)
- RIIP - Réseau International des Instituts Pasteur (25, rue du Dr Roux 75724 Paris Cedex 15 - France)
3
Department of Peadiatric Immuno-Haematology (Tunis - Tunisia)
- National Bone Marrow Transplantation (France)
4
Department of Haematology and Transplantation (Tunis - Tunisia)
8
Hôpital La Rabta [Tunis] (La Rabta Jebbari 1007 Tunis - 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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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 : Wednesday, October 28, 2020 - 9:52:03 AM
Contributor : Institut Pasteur Tunis <>
Submitted on : Wednesday, September 11, 2013 - 12:58:24 PM
Last modification on : Wednesday, October 28, 2020 - 9:52:03 AM
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- HAL Id : pasteur-00860878, version 1
- DOI : 10.1016/j.crvi.2013.02.001
- PUBMED : 23537767
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Citation
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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