Clinical features and outcome of children with Fanconi anemia in a resource-limited setting: a single-center study

Abstract Purpose To report clinical characteristics and outcome of patients with Fanconi anemia (FA) in a resource-limited setting. Methods We retrospectively analyzed data from 46 patients with FA diagnosed between January 2005 and December 2021. Results Forty-six children were included. Parental consanguinity was found among 84% of patients. A family history of FA and malignancy was reported in 43% and 13%, respectively. Most patients presented with hematological manifestations: anemia in 74% patients followed by thrombocytopenia in 72%. Ten out of the eighteen patients who received androgen therapy showed an initial good response to treatment. Nine (19.6%) of the patients had myelodysplasia; one of them, with 47, XY, + 1, went on to develop acute myeloid leukemia (AML). The median (IQR) age at development of MDS was 8.13 (2.15–10.65) years. Overall, 5/46 patients developed AML with a median (IQR) age at AML diagnosis of 11.9 (10.53–14.17) years. All five patients with AML died: four with progressive disease, and one patient died during HSCT. The median time of follow-up in our study was 9 years. Overall, we report seven mortalities with a median age at death of 13 years and a median time from diagnosis to death of 2.4 years. The main cause of death in our cohort was AML in five patients, while two patients died with infection and bleeding. Conclusion AML remains a leading cause of mortality in patients with FA. Close monitoring for early detection of myelodysplasia and access to HSCT a key to improved survival.