Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia.

Abstract

BACKGROUND:

Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. The aim of the present study was to assess the proportion of FA cases among aplastic anemia (AA) in Tunisian pediatric patients.

OBSERVATION:

Investigation of mitomycin C-induced chromosomal breakage was carried out in 163 pediatric patients with AA and siblings of the cases where diagnosis of FA was confirmed. We identified 31 patients with FA whose percentage of unstable mitoses ranges from 65% to 100%. Among 18 siblings who were investigated for chromosomal instability, 3 were incidentally found to be affected.

CONCLUSIONS:

FA is an important cause of AA in Tunisia. Our report is the first study in North Africa that explored cytogenetic and phenotypic findings in FA children. It also showed the importance of mitomycin C sensitivity screening in all FA siblings.

• Authors: Faten Talmoudi, Lobna Kammoun, Nizar Benhalim, Lamia Torjemane, Monia Ouederni, Lamia Aissaoui, Amel Lakhal, Fethi Mellouli, Tarek B Othmen, Mohamed Bejaoui, Sonia Abdelhak, Mounira Meddeb, Koussay Dellagi, Sondes Hdiji, Ahlem Amouri, Tunisian Fanconi Anemia Study Group
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 35 Issue 7 Pg. 547-50 (Oct 2013) ISSN: 1536-3678 [Electronic] United States
• PMID: 23337544 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Mitomycin

Topics

• Adolescent
• Anemia, Aplastic (complications, diagnosis, genetics)
• Child
• Child, Preschool
• Chromosomal Instability
• Chromosome Breakage (drug effects)
• Consanguinity
• Cytogenetic Analysis
• Diagnosis, Differential
• Fanconi Anemia (complications, diagnosis, genetics)
• Female
• Humans
• Infant
• Male
• Mitomycin (pharmacology)
• Tunisia