Aplastic anemia in children: the current concept of differential diagnosis

Abstract

This article presents a brief overview of publications on pediatric aplastic anemia (AA) and closely related conditions. Here we consider the pathophysiology of AA, which includes three main mechanisms of bone marrow destruction resulting in aplasia: direct injury, immune mediated destruction and bone marrow failure resulting from inherited and clonal disorders. New aspects of inherited bone marrow failure syndromes, inborn errors of immunity and myelodysplastic syndromes are highlighted as the most common conditions included in the spectrum of differential diagnosis of AA in children. A comprehensive algorithm for the diagnosis of AA in children is presented, including standard laboratory tests and additional modern molecular and genetic techniques that contribute to a better understanding of this heterogeneous group of diseases and determine approaches to the choice of therapy. The purpose of the review is to provide pediatricians and pediatric hematologists with an updated information of this rare, heterogeneous condition based on an analysis of the latest literature data.