Advances in the understanding of congenital amegakaryocytic thrombocytopenia

Summary Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytope...

Full description

Saved in:
Bibliographic Details
Published in:British journal of haematology 2009-07, Vol.146 (1), p.3-16
Main Authors: Ballmaier, Matthias, Germeshausen, Manuela
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diagnosis, Differential
Disease Progression
haematopoietic stem cells
Hematologic and hematopoietic diseases
Hematopoietic Stem Cell Transplantation
Humans
Infant, Newborn
inherited bone marrow failure syndromes
Medical sciences
Megakaryocytes - pathology
megakaryocytopoiesis
Mutation
Pancytopenia - genetics
Receptors, Thrombopoietin - genetics
thrombocytopenia
Thrombocytopenia - congenital
Thrombocytopenia - pathology
Thrombocytopenia - surgery
Thrombopoiesis - genetics
thrombopoietin
Thrombopoietin - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Summary Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytopenia progresses to pancytopenia during the first years of life. The only curative therapy to date is haematopoietic stem cell transplantation. Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. The essential roles of thrombopoietin as a lineage specific regulator of platelet production and as a regulator of haematopoietic stem cell function are reflected in the haematological defects seen in affected individuals.
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2009.07706.x