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dc.contributor.authorBragadottir, Gudrun
dc.contributor.authorBirgisdottir, Elisabet R
dc.contributor.authorGudmundsdottir, Brynja R
dc.contributor.authorHilmarsdottir, Bylgja
dc.contributor.authorVidarsson, Brynjar
dc.contributor.authorMagnusson, Magnus K
dc.contributor.authorLarsen, Ole Halfdan
dc.contributor.authorSorensen, Benny
dc.contributor.authorIngerslev, Jorgen
dc.contributor.authorOnundarson, Pall T
dc.date.accessioned2015-03-17T13:41:32Zen
dc.date.available2015-03-17T13:41:32Zen
dc.date.issued2015-02en
dc.date.submitted2015en
dc.identifier.citationAm. J. Hematol. 2015, 90 (2):149-55en
dc.identifier.issn1096-8652en
dc.identifier.pmid25370924en
dc.identifier.doi10.1002/ajh.23891en
dc.identifier.urihttp://hdl.handle.net/2336/346795en
dc.descriptionTo access publisher's full text version of this article click on the hyperlink at the bottom of the pageen
dc.description.abstractBernard-Soulier syndrome (BSS) is a rare severe autosomal recessive bleeding disorder. To date heterozygous carriers of BSS mutations have not been shown to have bleeding symptoms. We assessed bleeding using a semi-quantitative questionnaire, platelet parameters, PFA-100 closure times, ristocetin response, GP Ib/IX expression and VWF antigen in 14 BSS patients, 30 heterozygote carriers for related mutations and 29 controls. Eight mutations in GP1BA, GP1BB or GP9 were identified including four previously unknown pathogenic mutations. Subjects with BSS reported markedly more mucocutaneous bleeding than controls. Increased bleeding was also observed in heterozygotes. Compared to controls, patients with BSS had lower optical platelet counts (P < 0.001), CD61-platelet counts (P < 0.001) and higher mean platelet volume (17.7 vs. 7.8 fL, P < 0.001) and ristocetin response and closure times were unmeasurable. Heterozygotes had higher MPV (9.7 fL, P < 0.001) and lower platelet counts (P < 0.001) than controls but response to ristocetin and closure times were normal. The VWF was elevated in both BSS and in heterozygotes (P = 0.005). We conclude that heterozygotes for BSS mutations have lower platelet counts than controls and show a bleeding phenotype albeit much milder than in BSS. Both patients with BSS and heterozygote carriers of pathogenic mutations have raised VWF.
dc.description.sponsorshipIcelandic Center for Research, Landspitali Science Funden
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://dx.doi.org/ 10.1002/ajh.23891en
dc.rightsArchived with thanks to American journal of hematologyen
dc.subject.meshBernard-Soulier Syndromeen
dc.subject.meshHeterozygoteen
dc.subject.meshMutationen
dc.subject.meshPlatelet Glycoprotein GPIb-IX Complexen
dc.subject.meshvon Willebrand Diseasesen
dc.subject.meshPlatelet Function Testsen
dc.subject.meshThrombastheniaen
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAgeden
dc.subject.meshBlood Coagulationen
dc.subject.meshBlood Plateletsen
dc.subject.meshChilden
dc.subject.meshCoagulantsen
dc.subject.meshFemaleen
dc.subject.meshGene Expressionen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshPhenotypeen
dc.subject.meshPlatelet Counten
dc.subject.meshQuestionnairesen
dc.subject.meshRistocetin/pharmacologyen
dc.subject.meshSeverity of Illness Indexen
dc.subject.meshvon Willebrand Factor/genetics*en
dc.titleClinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.en
dc.typeArticleen
dc.contributor.departmentLaboratory Hematology and Coagulation Disorder Unit, Central Laboratory, Landspitali University Hospital, Reykjavik, Iceland.en
dc.identifier.journalAmerican journal of hematologyen
dc.rights.accessClosed - Lokaðen
html.description.abstractBernard-Soulier syndrome (BSS) is a rare severe autosomal recessive bleeding disorder. To date heterozygous carriers of BSS mutations have not been shown to have bleeding symptoms. We assessed bleeding using a semi-quantitative questionnaire, platelet parameters, PFA-100 closure times, ristocetin response, GP Ib/IX expression and VWF antigen in 14 BSS patients, 30 heterozygote carriers for related mutations and 29 controls. Eight mutations in GP1BA, GP1BB or GP9 were identified including four previously unknown pathogenic mutations. Subjects with BSS reported markedly more mucocutaneous bleeding than controls. Increased bleeding was also observed in heterozygotes. Compared to controls, patients with BSS had lower optical platelet counts (P < 0.001), CD61-platelet counts (P < 0.001) and higher mean platelet volume (17.7 vs. 7.8 fL, P < 0.001) and ristocetin response and closure times were unmeasurable. Heterozygotes had higher MPV (9.7 fL, P < 0.001) and lower platelet counts (P < 0.001) than controls but response to ristocetin and closure times were normal. The VWF was elevated in both BSS and in heterozygotes (P = 0.005). We conclude that heterozygotes for BSS mutations have lower platelet counts than controls and show a bleeding phenotype albeit much milder than in BSS. Both patients with BSS and heterozygote carriers of pathogenic mutations have raised VWF.


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