Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?

Date of submission: 30-10-2020 | Date of acceptance: 23-04-2021 | Published: 03-10-2021

Abstract

Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made before the onset of aplasia, highlighting the important clinical clues that physicians should be aware of.