Open Access

An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)

  • Authors:
    • Olga María Moreno
    • Angela Camila Paredes
    • Fernando Suarez‑Obando
    • Adriana Rojas
  • View Affiliations

  • Published online on: July 15, 2021     https://doi.org/10.3892/br.2021.1450
  • Article Number: 74
  • Copyright: © Moreno et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation‑dependent probe amplification and next‑generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow‑up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.

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September-2021
Volume 15 Issue 3

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Spandidos Publications style
Moreno OM, Paredes AC, Suarez‑Obando F and Rojas A: An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep 15: 74, 2021
APA
Moreno, O.M., Paredes, A.C., Suarez‑Obando, F., & Rojas, A. (2021). An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomedical Reports, 15, 74. https://doi.org/10.3892/br.2021.1450
MLA
Moreno, O. M., Paredes, A. C., Suarez‑Obando, F., Rojas, A."An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)". Biomedical Reports 15.3 (2021): 74.
Chicago
Moreno, O. M., Paredes, A. C., Suarez‑Obando, F., Rojas, A."An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)". Biomedical Reports 15, no. 3 (2021): 74. https://doi.org/10.3892/br.2021.1450