突尼斯再生障碍性贫血患儿范可尼贫血的细胞遗传学评估。

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

作者信息

Talmoudi Faten, Kammoun Lobna, Benhalim Nizar, Torjemane Lamia, Ouederni Monia, Aissaoui Lamia, Lakhal Amel, Mellouli Fethi, Othmen Tarek B, Bejaoui Mohamed, Abdelhak Sonia, Meddeb Mounira, Dellagi Koussay, Hdiji Sondes, Amouri Ahlem

机构信息

*Laboratory of Histology and Cytogenetics †Laboratory of Biomedical Genomics and Oncogenetics **Laboratory of Transmission, Immunology and Infection Control, Institut Pasteur de Tunis Departments of §Haematology and Transplantation ∥Paediatric Immuno-Haematology, National Bone Marrow Transplantation Centre ¶Department of Haematology, Aziza Othmana Hospital #Laboratory of Medical Genetics, Tunis ‡Department of Haematology, Hedi Chaker University Hospital, Sfax, Tunisia.

出版信息

J Pediatr Hematol Oncol. 2013 Oct;35(7):547-50. doi: 10.1097/MPH.0b013e31827e56cb.

DOI:10.1097/MPH.0b013e31827e56cb

PMID:23337544

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.

摘要