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Glanzmann thrombasthenia
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Glanzmann thrombasthenia

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Synopsis

A rare genetic coagulation disorder that results in spontaneous, prolonged, or heavy bleeding that can be life-threatening. Caused by mutations in the ITGA2B or ITGB3 gene that result in abnormal glycoprotein llb/llla function. This leads to lack of proteins on the platelets' surface, resulting in poor platelet aggregation. Signs and symptoms include epistaxis, menorrhagia, petechiae, easy bruising, hematoma, and rarely intracranial hemorrhage or hematuria. The condition typically can be detected at birth or during early infancy. An autosomal recessive disorder more frequently observed in offspring of consanguine parents.

For more information, see OMIM.

Codes

ICD10CM:
D69.1 – Qualitative platelet defects

SNOMEDCT:
32942005 – Glanzmann Thrombasthenia

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Last Updated: 03/29/2017
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Glanzmann thrombasthenia
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Glanzmann thrombasthenia : Bleeding time prolonged, Fibrinogen decreased, Ecchymosis, Epistaxis, Menorrhagia
Copyright © 2019 VisualDx®. All rights reserved.