Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions

Abstract

Once considered exceptionally rare, congenital thrombocytopenias are increasingly recognized as a heterogeneous group of disorders characterized by a reduction in platelet number and a bleeding tendency that may range from very mild to life threatening. Although some of these disorders affect only megakaryocytes and platelets, others involve different cell types and may result in characteristic phenotypic abnormalities. This review elaborates the clinical presentation and laboratory manifestations of common congenital thrombocytopenias in addition to exploring our understanding of the molecular basis of these disorders and therapeutic interventions available.