Hereditary thrombocytopenia with normal platelets
A rare genetic isolated constitutional thrombocytopenia disease characterized by decreased platelet counts not associated with platelet morphology or function impairment in multiple members of a family. Manifestations are variable typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising epistaxis petechiae). Occasionally a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Hereditary thrombocytopenia with normal platelets?
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