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Prepublished online as a Blood First Edition Paper on September 22, 2003; DOI 10.1182/blood-2003-05-1742.
Submitted June 13, 2003
Accepted September 2, 2003
Inherited thrombocytopenia: when a low platelet count does not mean ITP
Jonathan G Drachman*
Puget Sound Blood Center, Seattle, WA, USA; Division of Hematology, Department of, University of Washington, Seattle, WA, USA
* Corresponding author; email: jonathand{at}psbc.org.
Congenital thrombocytopenias, once considered rare and obscure conditions, are today recognized with increasing frequency, especially due to the measurement of platelet number as part of routine blood testing. The clinical spectrum of congenital thrombocytopenia ranges from severe bleeding diatheses, recognized within the first few weeks of life, to mild conditions that may remain undetected even in adulthood. For the latter group of diseases, distinguishing between inherited (primary) and acquired (secondary) thrombocytopenia, especially immune thrombocytopenia purpura (ITP), is essential in order to avoid unnecessary and potentially harmful treatments. In this review, the congenital thrombocytopenia syndromes will be discussed with specific attention focused on diagnostic criteria, clinical presentations, genetic etiology, and current medical management. The mutated gene(s) responsible for each syndrome will be reviewed as well as the potential implications for using gene therapy or gene repair in the future.
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