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Curr Opin Pediatr. 2004 Feb;16(1):15-22.

Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production.

Author information

1
Department of Pediatrics, University of California, San Diego, USA. Ageddis@ucsd.edu

Abstract

PURPOSE OF REVIEW:

To review the defined syndromes of inherited thrombocytopenia and discuss new genetic data for several disorders that shed light on the process of megakaryopoiesis.

RECENT FINDINGS:

The genes responsible for several inherited thrombocytopenias have been recently discovered, including congenital amegakaryocytic leukemia, amegakaryocytic thrombocytopenia with radio-ulnar synostosis, familial platelet syndrome with predisposition to acute myelogenous leukemia, Paris-Trousseau, Wiskott-Aldrich syndrome, and the May-Hegglin, Sebastian, Epstein, and Fechner syndromes. These clinical syndromes, combined with studies in mouse and in vitro models, reveal the importance of these genes for normal hematopoiesis.

SUMMARY:

Although inherited syndromes of thrombocytopenia are rare, characterization of mutations in these disorders has contributed greatly to our understanding of megakaryocyte and platelet development. A systematic registry of congenitally thrombocytopenic individuals would almost certainly lead to new genetic discoveries.

[Indexed for MEDLINE]

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