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Peculiar laboratory phenotype/ genotype relationship due to compound inherited protein C defects in a child with severe venous thromboembolism.

Hamostaseologie - 1 Feb 2018

Bulato Cristiana, Campello Elena, Gavasso Sabrina, Maggiolo Sara, Tormene Daniela, Simioni Paolo

Abstract excerpt

A 7-years-old child who developed unprovoked deep vein thrombosis (DVT) and pulmonary embolism (PE) was tested for inherited thrombophilia. Protein C (PC) antigen level (87 %) and PC coagulometric and amidolytic activities (12 % and 11 %, respectively) were consistent with a homozygous PC type IIA phenotype.The patient was carrier of two heterozygous missense mutations causing p.Arg32Cys substitution associated...

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PMID: 29536478
DOI: 10.5482/HAMO-17-03-0013

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