Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations

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dc.contributor.authorGultekin, Nazli Dilay
dc.contributor.authorYilmaz, Fatma Hilal
dc.contributor.authorTokgoz, Huseyin
dc.contributor.authorTarakci, Nuriye
dc.contributor.authorCaliskan, Umran
dc.date.accessioned2024-02-23T14:00:02Z
dc.date.available2024-02-23T14:00:02Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractIntroductionGlanzmann thrombasthenia is a rare congenital platelet dysfunction.Case characteristicsA 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations.OutcomeGeneral precautions to avoid injuries and spontaneous bleeding were advised.MessageLife-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors.en_US
dc.identifier.doi10.1007/s13312-019-1489-3
dc.identifier.endpage144en_US
dc.identifier.issn0019-6061
dc.identifier.issn0974-7559
dc.identifier.issue2en_US
dc.identifier.pmid30819996en_US
dc.identifier.scopus2-s2.0-85061986715en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage143en_US
dc.identifier.urihttps://doi.org/10.1007/s13312-019-1489-3
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11434
dc.identifier.volume56en_US
dc.identifier.wosWOS:000459431700013en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Indiaen_US
dc.relation.ispartofIndian Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBleedingen_US
dc.subjectJaundiceen_US
dc.subjectNeonateen_US
dc.subjectThrombocytopeniaen_US
dc.titleGlanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutationsen_US
dc.typeArticleen_US

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