Fanconi Anemia a Rare Disease

Abstract

Fanconi anemia (FA) is a genetically and phenotypically recessive autosomal illness. Fanconi anemia (FA), a rare genetic illness, is currently receiving more attention from hematologists, cancer biologists, and fundamental scientists studying DNA repair and ubiquitin biology. Chromosome instability, progressive bone marrow failure, cancer susceptibility, and several other congenital anomalies are its defining characteristics. All three blood cell lines are included. This is a fatal illness that typically strikes children under the age of five. One of the fastest-growing fields of medical study is FA. The discovery of 15 distinct FA genes and the clarification of the FA molecular pathways have contributed to our knowledge of the pathogenic mechanism and, in many cases, the development of treatment guidelines. Because FA possesses distinct traits in many different biological areas, investigations on FA provided significant material for studies on malignancies. Research has demonstrated a genetic relationship between FA and cancer, showing that both cancer genes and FA genes are present in malignancies. FA is therefore identified as a prototypical illness for the comprehension of aging and cancer. Here we review the incidence of FA, Genetics, Pathophysiology, impact of FA, Identification of FA genes and delineation of FA pathways, Symptoms and indication, Diagnosis, Management, Complication and Prevention, and patient education about FA.