‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’

‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’ | Authorea try { document.documentElement.classList.add('js'); } catch (e) { } var _gaq = _gaq || []; _gaq.push(['_setAccount', 'G-8VDV14Y67G']); _gaq.push(['_trackPageview']); (function() { var ga = document.createElement('script'); ga.type = 'text/javascript'; ga.async = true; ga.src = ('https:' == document.location.protocol ? 'https://ssl' : 'http://www') + '.google-analytics.com/ga.js'; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(ga, s); })(); Skip to main content Preprints Collections Wiley Open Research IET Open Research Ecological Society of Japan All Collections About About Authorea FAQs Contact Us Quick Search anywhere Search for preprint articles, keywords, etc. Search Search ADVANCED SEARCH SCROLL This is a preprint and has not been peer reviewed. Data may be preliminary. 12 February 2025 V1 Latest version Share on ‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’ Authors : Saranti S , Joanne Traeger-Synodinos , Christalena Sofocleous 0000-0002-3205-4287 , Selenti N , Kattamis , Vassilios Papadakis 0000-0002-1821-7799 , Evgenios Goussetis , Charikleia Kelaidi 0000-0002-7118-624X , Anna Paisiou , Sophia Polychronopoulou , and Kossiva L. [email protected] Authors Info & Affiliations https://doi.org/10.22541/au.173934732.24928571/v1 242 views 148 downloads Contents Abstract Supplementary Material Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Background : Fanconi anemia (FA) is a rare genomic instability disorder, characterized by congenital abnormalities, progressive bone marrow failure and predisposition to cancer. FA is caused by (likely) pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed to allow insights into FA. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at diagnosis. Results: Phenotype evaluation demonstrated in 11/13 patients’ congenital anomalies, primarily pigmentary changes and short stature, in 90% of cases. Haematological abnormalities were present in 10/11 patients, with thrombocytopenia being the prominent finding. Genetic analysis for the most common complementation group FA-A revealed that 12/13 patients belonged to this group and only one patient was found to be FA-E. Exon deletions, single nucleotide variations, and duplications were identified. Familial patterns, due to consanguinity, were evident in one case. Twelve patients underwent hematopoietic stem cell transplantation (HSCT), with variable pre-HSCT supportive treatments. Post-HSCT data showed that 9 out of 10 patients for whom follow up data was available, survived for a median time of 5.4. Complications like acute graft-versus-host disease were noted. Conclusions : Our study highlights the importance of genotype-phenotype correlations towards tailored clinical management including the optimum time for HSCT in patients with FA. Supplementary Material File (insights into fanconi anemia final manuscript docx.docx) Download 46.99 KB File (table 1.docx) Download 21.18 KB File (table 2 characteristics of 13 patients with fanconi anemia.docx) Download 16.46 KB Information & Authors Information Version history V1 Version 1 12 February 2025 Copyright This work is licensed under a Non Exclusive No Reuse License. Keywords anemia aplastic bone marrow failure molecular biology pediatric hematology/oncology Authors Affiliations Saranti S Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole View all articles by this author Joanne Traeger-Synodinos Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole View all articles by this author Christalena Sofocleous 0000-0002-3205-4287 Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole View all articles by this author Selenti N Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole View all articles by this author Kattamis Nosokomeio Paidon e Agia Sophia View all articles by this author Vassilios Papadakis 0000-0002-1821-7799 Nosokomeio Paidon e Agia Sophia View all articles by this author Evgenios Goussetis Nosokomeio Paidon e Agia Sophia View all articles by this author Charikleia Kelaidi 0000-0002-7118-624X Nosokomeio Paidon e Agia Sophia View all articles by this author Anna Paisiou Nosokomeio Paidon e Agia Sophia View all articles by this author Sophia Polychronopoulou Nosokomeio Paidon e Agia Sophia View all articles by this author Kossiva L. [email protected] Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole View all articles by this author Metrics & Citations Metrics Article Usage 242 views 148 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation Saranti S, Joanne Traeger-Synodinos, Christalena Sofocleous, et al. ‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’. Authorea . 12 February 2025. DOI: https://doi.org/10.22541/au.173934732.24928571/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . 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