ABSTRACT
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.
KEYWORDS
Bone marrow failure - thrombopoietin -
MPL gene - hematopoietic stem cell transplantation - thrombocytopenia
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Matthias BallmaierPh.D.
Pediatric Hematology and Oncology/Molecular Hematopoiesis, OE9411 - J11-H0-1110, Medizinische
Hochschule Hannover
Carl-Neuberg- Strasse 1, D-30625 Hannover, Germany
eMail: Ballmaier.Matthias@mh-hannover.de
