Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

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A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation.

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 May 2024

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Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation?

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