Fanconi anemia and paroxysmal nocturnal hemoglobinuria, case report

Abstract

Introduction: Fanconi Anemia is a congenital disease associated with defects in the mechanisms of repair of the genetic material that allow to maintain the stability of the human genoma. Paroxysmal Nocturnal Hemoglobinuria is a clonal and acquired disease caused by a somatic mutation in the gene PIG-A. Objective: to present the characteristics of a child with diagnosis of Fanconi Anemia with a Paroxysmal Nocturnal Hemoglobinuria clone. Development: An 8 year-old female infant who come to the consultation for mucosal-skin paleness and purpuric manifestations. After several studies the diagnosis of Fanconi Anemia with Paroxysmal Nocturnal Hemoglobinuria clone was made. Conclusions: patient with a medullary failure congenital and acquired, that given their characteristics require of the bone marrow transplantation like only curative therapy.