Hereditary thrombocytopenia with early-onset myelofibrosis

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Hereditary thrombocytopenia with early-onset myelofibrosis

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: // Data version September 2023.

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Hereditary thrombocytopenia with early-onset myelofibrosis?

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Advocacy Organizations

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

Clinical Trials

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