{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T17:45:57Z","timestamp":1744652757377},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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.<\/jats:p><jats:p>The patient was carrier of two heterozygous missense mutations causing p.Arg32Cys substitution associated with a type I PC defect (\u201cnull allele\u201d, from the paternal side) and p.Gly433Ser substitution responsible for a type IIA PC defect (from the maternal side). Thus, the apparently normal PC antigen level in the proband was misleading in the interpretation of phenotype\/genotype relationship of this compound PC defect. The child was also carrier of heterozygous prothrombin G20210A variant.<\/jats:p><jats:p>Severe venous thromboembolism can occur in otherwise healthy children with complex inherited thrombophilia. Careful laboratory characterization of the phenotype\/genotype relationship can be crucial to correctly classify PC defects and for their management with anticoagulants or replacement therapy.<\/jats:p>","DOI":"10.5482\/hamo-17-03-0013","type":"journal-article","created":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T06:08:10Z","timestamp":1540361290000},"page":"33-38","source":"Crossref","is-referenced-by-count":3,"title":["Peculiar laboratory phenotype\/ genotype relationship due to compound inherited protein C defects in a child with severe venous thromboembolism"],"prefix":"10.5482","volume":"38","author":[{"given":"Cristiana","family":"Bulato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Campello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Gavasso","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Maggiolo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Tormene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Simioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,2,26]]},"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.5482\/HAMO-17-03-0013.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T06:08:13Z","timestamp":1540361293000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.5482\/HAMO-17-03-0013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2018,2,26]]},"published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.5482\/hamo-17-03-0013","relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}