Anemia de fanconi em paciente diagnosticada no serviço público do estado da Bahia: primeiro relato de caso

Abstract

Introduction: Fanconi Anemia (FA) is a rare, genetic, multisystemic disease, defined mainly by bone marrow failure, somatic malformations and a high predisposition to cancer. The main characteristic of FA is its genomic instability, which affects DNA repair and cell cycle regulation. Physical and developmental characteristics may include hyperpigmentation, short stature, malformations of the thumb and forearms, skeletal and cardiac anomalies, among others. Objective: to describe for the first time in the literature a patient with FA in the State of Bahia. Case report: a girl diagnosed with FA at three years of age, in a Public University Hospital, presenting some characteristic signs of the disease, underwent allogeneic bone marrow transplantation. Conclusion: studies like this can help to publicize the disease, enabling new early diagnoses, as well as can contribute to the clinical characterization of FA, given the heterogeneity presented by this disease.