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Revista Cubana de Hematología, Inmunología y Hemoterapia
versão On-line ISSN 1561-2996
Resumo
GUTIERREZ GUTIERREZ, Reinaldo et al. Cytogenetic diagnosis of Fanconi anemia in Cuban patients with clinical suspicion of the disease. Rev Cubana Hematol Inmunol Hemoter [online]. 2021, vol.37, n.1 Epub 01-Mar-2021. ISSN 1561-2996.
Introduction:
Fanconi anemia is a rare genetic disease of autosomal inheritance or X-linked, characterized by genomic instability and hypersensitivity to DNA cross-linking agents like diepoxybutane and mitomycin C (MMC). The basis for its diagnosis is an abnormal response to these substances, which constitutes a unique cell marker and manifests as an increased chromosomal breakage rate.
Objective:
To perform the analysis of the chromosomal breakages induced by mitomycin C in peripheral blood lymphocytes of Cuban patients with suspicion of Fanconi anemia.
Methods:
A study was conducted of chromosomal breakages induced by mitomycin C at various concentrations in cultures of T lymphocytes from venous peripheral blood of 32 patients with clinical suspicion of Fanconi anemia and an equal number of control subjects.
Results:
At the end of the analysis, six patients (20%) were diagnosed with Fanconi anemia. Of these, four showed a high percentage of breakages and two had somatic mosaicism. From a clinical point of view, four had aplastic anemia and two only presented dysmorphic features typical of the disease.
Conclusions:
Evaluation of the chromosomal breakages induced by mitomycin C led to the definitive diagnosis of Fanconi anemia in patients with a history of aplastic anemia, even in the absence of congenital anomalies. This is the first study of its type in a group of Cuban patients.
Palavras-chave : Fanconi anemia; chromosomal breakages; mitomycin C; aplastic anemia.