Hereditary thrombocytopenia with early-onset myelofibrosis

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A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis menorrhagia and petechiae) in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular plasma thrombopoietin is elevated and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients including mild bone abnormalities and facial dysmorphism with large forehead hypertelorism deep-set eyes and wide nostrils.

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 http://www.orphadata.org. Data version June 2024

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Hereditary thrombocytopenia with early-onset myelofibrosis?

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