Premium
Congenital amegakaryocytic thrombocytopenia
Author(s) -
Geddis Amy E.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22927
Subject(s) - thrombopoietin , medicine , bone marrow failure , thrombopoietin receptor , bone marrow , blood cancer , immunology , bioinformatics , cancer research , cancer , haematopoiesis , genetics , stem cell , biology
Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a child without congenital or skeletal malformations, reduced or absent bone marrow megakaryocytes, and eventual progression to bone marrow failure. Molecular studies in most cases confirm homozygous or compound heterozygous mutations in the thrombopoietin receptor c‐Mpl. In addition to the clinical importance of recognizing this disorder, characterization of mutations identified in patients with CAMT has led to insights into thrombopoietin receptor structure and function. This review will summarize the diagnosis, pathophysiology, and management of CAMT. Pediatr Blood Cancer 2011; 57: 199–203. © 2011 Wiley‐Liss, Inc.