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Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1.
Acta Haematol. 2009; 121(2-3):85-97.AH

Abstract

Mild type 1 von Willebrand disease (VWD) is characterized by low to variable penetrance of bleeding, a high (increased) prevalence of blood group O, von Willebrand factor (VWF) values around and above 30% with normal ratios of VWF:ristocetin cofactor activity (RCo)/VWF:antigen (Ag), VWF:collagen binding (CB)/VWF:Ag and factor VIII (FVIII):coagulant activity (C)/VWF:Ag. Within this group of patients, the combination of the C1584 mutation and blood group O is rather frequent. Patients with mild VWD type 1 present good/normal responses of FVIII:C and VWF parameters to desmopressin (DDAVP). With the exclusion of dominant VWD type Vicenza, type 1/2E, recessive 2N and dominant 2M, missense mutations in patients with mild VWD type 1 with normal multimers are mainly located in the regulatory sequence region, the D1/D2 propeptide region, the D' VWF-FVIII binding site region and the D4, B1-B3 and C1-C2 domains but rarely in the D3, A1 or A2 domain. A new category of either dominant or recessive mild VWD type 1 due to mutations in the D4, B1-B3 and C1-C2 domains of the VWF gene consists of two groups: one group with mild VWD with normal VWF multimers and a second group with mild/moderate VWD with smeary multimer pattern.

Authors+Show Affiliations

Hemostasis and Thrombosis Research Center, Antwerp University Hospital, Wilrijkstraat 10, Edegem, Belgium. postbus@goodheartcenter.demon.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19506353

Citation

Michiels, Jan Jacques, et al. "Laboratory Diagnosis and Molecular Basis of Mild Von Willebrand Disease Type 1." Acta Haematologica, vol. 121, no. 2-3, 2009, pp. 85-97.
Michiels JJ, Berneman Z, Gadisseur A, et al. Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. Acta Haematol. 2009;121(2-3):85-97.
Michiels, J. J., Berneman, Z., Gadisseur, A., van der Planken, M., Schroyens, W., & van Vliet, H. H. (2009). Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. Acta Haematologica, 121(2-3), 85-97. https://doi.org/10.1159/000214847
Michiels JJ, et al. Laboratory Diagnosis and Molecular Basis of Mild Von Willebrand Disease Type 1. Acta Haematol. 2009;121(2-3):85-97. PubMed PMID: 19506353.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. AU - Michiels,Jan Jacques, AU - Berneman,Zwi, AU - Gadisseur,Alain, AU - van der Planken,Marc, AU - Schroyens,Wilfried, AU - van Vliet,Huub H D M, Y1 - 2009/06/08/ PY - 2009/6/10/entrez PY - 2009/6/10/pubmed PY - 2009/7/7/medline SP - 85 EP - 97 JF - Acta haematologica JO - Acta Haematol. VL - 121 IS - 2-3 N2 - Mild type 1 von Willebrand disease (VWD) is characterized by low to variable penetrance of bleeding, a high (increased) prevalence of blood group O, von Willebrand factor (VWF) values around and above 30% with normal ratios of VWF:ristocetin cofactor activity (RCo)/VWF:antigen (Ag), VWF:collagen binding (CB)/VWF:Ag and factor VIII (FVIII):coagulant activity (C)/VWF:Ag. Within this group of patients, the combination of the C1584 mutation and blood group O is rather frequent. Patients with mild VWD type 1 present good/normal responses of FVIII:C and VWF parameters to desmopressin (DDAVP). With the exclusion of dominant VWD type Vicenza, type 1/2E, recessive 2N and dominant 2M, missense mutations in patients with mild VWD type 1 with normal multimers are mainly located in the regulatory sequence region, the D1/D2 propeptide region, the D' VWF-FVIII binding site region and the D4, B1-B3 and C1-C2 domains but rarely in the D3, A1 or A2 domain. A new category of either dominant or recessive mild VWD type 1 due to mutations in the D4, B1-B3 and C1-C2 domains of the VWF gene consists of two groups: one group with mild VWD with normal VWF multimers and a second group with mild/moderate VWD with smeary multimer pattern. SN - 1421-9662 UR - https://www.unboundmedicine.com/medline/citation/19506353/Laboratory_diagnosis_and_molecular_basis_of_mild_von_Willebrand_disease_type_1_ L2 - https://www.karger.com?DOI=10.1159/000214847 DB - PRIME DP - Unbound Medicine ER -