Hereditary thrombocytopenia with normal platelets

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Hereditary thrombocytopenia with normal platelets?

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