Tracking Cytopenias in <i>FANCA</i>-deficient Fanconi Anemia.

ABSTRACT: Fanconi anemia (FA) is an inherited disorder classically characterized by childhood-onset bone marrow dysfunction and lifelong cancer predisposition. FA is caused by pathogenic variants in any one of 23 genes identified so far. Of these, FANCA is the most frequently mutated and accounts for disease in two-thirds of all patients with FA. The spectrum of FANCA pathogenic variants (mutations) is broad, and genotype-phenotype correlation is often unclear. Here we describe the natural history of cytopenias associated with FANCA pathogenic variants in 139 individuals diagnosed in 1995 or later. We followed blood cell counts over time and correlated these with the classification of patient mutation subtypes. Most participants experienced age-related declines in hematologic pa

SUBMITTER: Maxwell RR 

PROVIDER: S-EPMC12723965 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature