Evaluation of Clinical and Genetic Features of 40 Patients with Fanconi Anemia: A Single-Center Experience

OpenAlex İngilizce

Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome that leads to congenital malformations, aplastic anemia, and cancer. FA is also classified as a chromosome breakage syndrome. FA cells are hypersensitive to diepoxybutane (DEB) and mitomycin C (MMC). To date, 23 genes have been identified to be responsible for FA. Forty patients diagnosed with FA between 2012 and 2022 were included in the study. Patients were evaluated in terms of growth retardation, congenital abnormalities, and cancer development. Reports of chromosome breakage tests, laboratory workup, imaging studies, and mutation analyses were reviewed for each patient. The median age at diagnosis was 101 months. Microcephaly (92.5%) was the most common clinical finding. The most common laboratory findings at the time of diagnosis were macrocytosis and thrombocytopenia (62.5% each), and 70% of the patients had bone marrow failure. DEB test was positive in 24 patients. FANCA (89.6%) was most commonly mutated, and four novel variants were identified in six patients. While leukemia was detected in two patients, none of the patients had solid tumors. Early diagnosis of FA is essential for the timely management of complications and improvement of patient outcomes. The diagnosis of FA is based on a combination of clinical manifestations, laboratory findings, and genetic testing. Keywords: Aplastic anemia, Bone marrow failure, Children, Fanconi anemia