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

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.

journal_name

Semin Thromb Hemost

authors

Ballmaier M,Germeshausen M

doi

10.1055/s-0031-1291377

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

673-81

issue

6

eissn

0094-6176

issn

1098-9064

journal_volume

37

pub_type

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