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

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

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Department of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany.


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.

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