Severe autosomal recessive macrothrombocytopenia

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Severe autosomal recessive macrothrombocytopenia

A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis spontaneous hematomas and menorrhagia.

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 March 2024

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Severe autosomal recessive macrothrombocytopenia?

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Clinical Trials

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