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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Mannucci, P. M. Articles by Mariani, G. Search for Related Content PubMed PubMed Citation Articles by Mannucci, P. M. Articles by Mariani, G. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A variant of von Willebrand's disease characterized by recessive inheritance and missing triplet structure of von Willebrand factor multimers PM Mannucci, R Lombardi, FI Pareti, S Solinas, MG Mazzucconi and G Mariani A 10-yr-old girl had bleeding symptoms of moderate severity; her mother and maternal aunt had milder bleeding symptoms, and other members of the kindred were asymptomatic. In the child, factor VIII coagulant activity (VIII:C) and von Willebrand factor antigen (vWF:Ag) were normal, ristocetin cofactor very low, and the bleeding time (BT) markedly prolonged. These values were normal in the rest of the kindred, but the mother and maternal aunt had prolonged BT and a high VIII:C/vWF:Ag ratio. Crossed immunoelectrophoresis (CIE) showed a vWF:Ag peak migrating more anodally in the propositus, two distinct peaks, one migrating anodally, in the father, paternal uncle, and grandmother, and normal peaks in the rest of the kindred. In the propositus, analysis of vWF multimers in plasma on 1.6% sodium dodecyl sulfate (SDS) agarose revealed that there were no larger multimers and there was a relative increase of the smallest multimer. This relative increase was also seen in her relatives with a double peak on CIE. Using gels of smaller porosity, each multimer of the propositus's plasma consisted of a single band, instead of the repeating triplet seen in normal and von Willebrand's disease varients types IIA and IIB. The abnormalities found in the propositus are tentatively interpreted as being due to double heterozygosity for two different genes. The defective gene carried by the father affects the triplet structure of vWF multimers, whereas a prolonged BT and a high VII:C/vWF:Ag ratio are the only phenotypic expressions of the defective gene of the mother. The findings of aberrant triplet structure in congenital vWD strengthen the view that this structure is an intrinsic feature of the normal vWF molecule. Volume 62, Issue 5, pp. 1000-1005, 11/01/1983 Copyright © 1983 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. J. Michiels, Z. Berneman, A. Gadisseur, M. van der Planken, W. Schroyens, A. van de Velde, and H. van Vliet Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand Disease Clinical and Applied Thrombosis/Hemostasis, October 1, 2006; 12(4): 397 - 420. [Abstract] [PDF]

	Copyright © 1983 by American Society of Hematology         Online ISSN: 1528-0020