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Phenotype and genot...
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
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Goodeve, Anne (author)
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Eikenboom, Jeroen (author)
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Castaman, Giancarlo (author)
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Rodeghiero, Francesco (author)
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Federici, Augusto B. (author)
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Batlle, Javier (author)
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Meyer, Dominique (author)
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Mazurier, Claudine (author)
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Goudemand, Jenny (author)
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Schneppenheim, Reinhard (author)
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Budde, Ulrich (author)
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Ingerslev, Jorgen (author)
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Habart, David (author)
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Vorlova, Zdena (author)
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- Holmberg, Lars (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Lethagen, Stefan (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
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Pasi, John (author)
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Hill, Frank (author)
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Soteh, Mohammad Hashemi (author)
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Baronciani, Luciano (author)
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- Halldén, Christer (author)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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Guilliatt, Andrea (author)
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Lester, Will (author)
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Peake, Ian (author)
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(creator_code:org_t)
- 2006-09-19
- 2007
- English.
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In: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 109:1, s. 112-121
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Abstract
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- Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of bleeding coincident with reduced levels of normal plasma von Willebrand factor (VWF). The molecular basis of the disorder is poorly understood. The aims of this study were to determine phenotype and genotype and their relationship in patients historically diagnosed with type 1 VWD. Families were recruited in 9 European countries based on previous type 1 VWD diagnosis. Bleeding symptoms were recorded, plasma phenotype analyzed, and VWF mutation analysis performed in all index cases (ICs). Phenotypic and molecular analysis stratified patients into those with or without phenotypes suggestive of qualitative VWF defects (abnormal multimers) and with or without mutations. A total of 105 of 150 ICs (70%) had mutations identified. A subgroup with abnormal multimers (38% of ICs, 57 of 150) showed a high prevalence of VWF gene mutations (95% of ICs, 54 of 57), whereas in those with qualitatively normal VWF, fewer mutations were identified (55% of ICs, 51 of 93). About one third of the type I VWD cases recruited could be reconsidered as type 2. The remaining group could be considered "true" type 1 VWD, although mutations were found in only 55%.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
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- art (subject category)
- ref (subject category)
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Blood
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- By the author/editor
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Goodeve, Anne
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Eikenboom, Jeroe ...
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Castaman, Gianca ...
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Rodeghiero, Fran ...
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Federici, August ...
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Batlle, Javier
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show more...
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Meyer, Dominique
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Mazurier, Claudi ...
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Goudemand, Jenny
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Schneppenheim, R ...
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Budde, Ulrich
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Ingerslev, Jorge ...
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Habart, David
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Vorlova, Zdena
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Holmberg, Lars
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Lethagen, Stefan
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Pasi, John
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Hill, Frank
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Soteh, Mohammad ...
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Baronciani, Luci ...
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Halldén, Christe ...
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Guilliatt, Andre ...
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Lester, Will
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Peake, Ian
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
- Articles in the publication
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Blood
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Lund University