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.