Polimorfismos genéticos y alteraciones clínicas presentes en pacientes con anemia de Fanconi

Fanconi anemia is an inherited disease with a low global incidence, characterized by genotypic variety associated with hematological alterations and neoplastic processes, making it a condition with a poor prognosis and a low survival rate if not detected early. Currently, the most common subtype of the disease is Fanconi anemia type A, which
presents clinical manifestations such as microcephaly, tracheoesophageal fistula, or microphthalmia, present in more than half of Fanconi anemia patients. Diagnosis is based on clinical manifestations and is confirmed through chromosomal fragility tests, which guide medical personnel in providing timely treatment. What will be elaborated throughout the reading are the diagnostic method, treatment, and genotypic and phenotypic alterations of Fanconi anemia.