title: [Congenital amegakaryocytic thrombocytopenia in a 12 year old boy with no signs of pancytopenia: molecular analysis].
abstract: Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene.
authors.affiliation: Servicio de Pediatría. Hospital Santiago Apóstol. Vitoria. España. mbastida@hsan.osakidetza.net
authors.forename: M
authors.initials: M
authors.lastname: Bastida Eizaguirre
authors.forename: A
authors.initials: A
authors.lastname: Pereda Vicandi
authors.forename: I
authors.initials: I
authors.lastname: Pujana Zaldegui
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008967:Molecular Biology / Q000379:methods; D010198:Pancytopenia / Q000175:diagnosis; D017354:Point Mutation / Q000235:genetics; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D034061:Thrombopoiesis / Q000502:physiology*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human