Current and novel directions in Fanconi anemia treatment methods - a literature review
DOI:
https://doi.org/10.5281/zenodo.8014773Keywords:
fanconi anemia, gene therapy, stem cell transplant, hereditary anemia, needs-led researchAbstract
Fanconi anemia is a genetically-transmitted disease caused by biallelic inactivating mutations in more than 20 genes. While its main symptoms include severe anemia, other cytopenias and skin pigmentation impairments, the aspect which concerns both patients and caregivers is the connection between fanconi anemia and the development of several malignancies, especially breast, skin and blood-related cancers, as well as squamous cell carcinomas. Current treatment methods rely on anemia correction through stem cell transplantation, however it has become more and more evident that modern and more efficient therapies need to be developed. This needs-led literature review provides an overview of the main highlights in Fanconi anemia current and emerging therapeutic directions in order to improve the patients’ quality of life.
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