Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

Semin Thromb Hemost. 2011 Sep;37(6):673-81. doi: 10.1055/s-0031-1291377. Epub 2011 Nov 18.


Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. Most of the patients develop a severe aplastic anemia and trilineage cytopenia during the first years of life and hematopoietic stem cell transplantation is the only curative treatment. In most of the cases the disease is caused by homozygous or compound heterozygous mutations in the gene MPL encoding the receptor for the hematopoietic growth factor thrombopoietin. The present review summarizes clinical and laboratory data for 96 patients with CAMT, reported since 1990.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Aplastic / diagnosis
  • Congenital Bone Marrow Failure Syndromes
  • Hematopoietic Stem Cell Transplantation / methods
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation
  • Pancytopenia / diagnosis
  • Receptors, Thrombopoietin / genetics
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics
  • Thrombocytopenia / surgery*
  • Treatment Outcome


  • Receptors, Thrombopoietin
  • MPL protein, human

Supplementary concepts

  • Congenital amegakaryocytic thrombocytopenia