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Medicina interna de México

versión impresa ISSN 0186-4866

Resumen

HERNANDEZ-MARTINEZ, Alejandro. Fanconi anemia. Med. interna Méx. [online]. 2018, vol.34, n.5, pp.730-734. ISSN 0186-4866.  http://dx.doi.org/10.24245/mim.v34i5.1836.

Fanconi anemia is a hereditary disease with an autosomal recessive transmission pattern, associated with multiple mutations on at least 20 genes whose products are part of the cell’s genetic material repair mechanisms. These mutations produce chromosomal instability, which results in diverse clinical manifestations; the most characteristic is bone marrow failure, congenital abnormalities and a high predisposition to neoplasms. Clinical diagnosis of this disorder is difficult, not only due to its heterogeneity but also because is little suspected, being necessary laboratory test to allow confirmation. In like manner, treatment of the disease is difficult as its mainly focused on symptoms management and prevention of associated conditions, therefore Fanconi anemia needs to be known in order to be able to give patients a correct follow up.

Palabras llave : Fanconi anemia; Bone Marrow Diseases; Genetic Diseases, Inborn.

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