| Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. | |
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MedLine Citation:
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PMID: 22102270 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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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Authors:
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Matthias Ballmaier; Manuela Germeshausen |
Publication Detail:
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Type: Journal Article Date: 2011-11-18 |
Journal Detail:
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Title: Seminars in thrombosis and hemostasis Volume: 37 ISSN: 1098-9064 ISO Abbreviation: Semin. Thromb. Hemost. Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-11-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0431155 Medline TA: Semin Thromb Hemost Country: United States |
Other Details:
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Languages: eng Pagination: 673-81 Citation Subset: IM |
Copyright Information:
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© Thieme Medical Publishers. |
Affiliation:
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Department of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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