Co-existing mild haemophilia a with mild type 1 von willebrand disease: Case report [Hafif tip von willebrand hastali{dotless}gi{dotless} ile hafif hemofili a birlikteligi]

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dc.contributor.authorAkin M.
dc.contributor.authorKarapinar D.Y.
dc.contributor.authorBalkan C.
dc.contributor.authorAy Y.
dc.contributor.authorKavakli K.
dc.date.accessioned2019-10-27T08:33:42Z
dc.date.available2019-10-27T08:33:42Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractVon Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1- year old male was admitted to our hospital with a history of excessive bleeding following circumcision. Initial laboratory evaluation revealed a prolonged activated partial thromboplastin time (APTT) of 46.2 s (normal range 23.2-34.7), and low FVIII activity level of 5.5% of normal. His subsequent evaluation, was also consistent with mild type 1 VWD with a decreased VWF antigen (VWF:Ag) of 50%, decreased ristocetin cofactor activity (VWF:RCo) of 44%. The DNA testing detected a C2 domain R2304H mutation of the FVIII gene. We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported.en_US
dc.identifier.doi10.4999/uhod.10048
dc.identifier.endpage114en_US
dc.identifier.issn1306133X
dc.identifier.issn1306-133Xen_US
dc.identifier.issue2en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage111en_US
dc.identifier.urihttps://doi.org/10.4999/uhod.10048
dc.identifier.urihttps://hdl.handle.net/11454/26857
dc.identifier.volume21en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofUHOD - Uluslararasi Hematoloji-Onkoloji Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHaemophiliaen_US
dc.subjectVon willebrand diseaseen_US
dc.titleCo-existing mild haemophilia a with mild type 1 von willebrand disease: Case report [Hafif tip von willebrand hastali{dotless}gi{dotless} ile hafif hemofili a birlikteligi]en_US
dc.typeArticleen_US

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