No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation

Blood

Volumn 121, Issue 18, 2013, Pages 3742-3744

  Flood, Veronica H ^a,b   Friedman, Kenneth D ^c   Gill, Joan Cox ^a,b,c   Haberichter, Sandra L ^a,b,c   Christopherson, Pamela A ^c   Branchford, Brian R ^a,d   Hoffmann, Raymond G ^a   Abshire, Thomas C ^a,b,c,e   Dunn, Amy L ^e   Di Paola, Jorge A ^d,f   Hoots, W Keith ^g,h   Brown, Deborah L ^g   Leissinger, Cindy ⁱ   Lusher, Jeanne M ^j   Ragni, Margaret V ^k   Shapiro, Amy D ^l   Montgomery, Robert R ^a,b,c  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b Children's Hospital of Wisconsin   (United States)

^c BLOOD RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g UNIVERSITY OF TEXAS   (United States)

^h NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

ⁱ TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^k UNIVERSITY OF PITTSBURGH   (United States)

^l INDIANA HEMOPHILIA AND THROMBOSIS CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RISTOCETIN; VON WILLEBRAND FACTOR; ASPARTIC ACID; HISTIDINE;

AFRICAN AMERICAN; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BLOOD GROUP O; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LABORATORY TEST; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; NATIONAL HEALTH ORGANIZATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DETERMINATION; PUBLICATION; RESPONSIBILITY; RISK FACTOR; RISTOCETIN COFACTOR ACTIVITY ASSAY; SCORING SYSTEM; SELECTION BIAS; VON WILLEBRAND DISEASE; CASE CONTROL STUDY; GENETICS; INCIDENCE; METHODOLOGY; MISSENSE MUTATION; SEVERITY OF ILLNESS INDEX;

AMINO ACID SUBSTITUTION; ASPARTIC ACID; CASE-CONTROL STUDIES; HEMORRHAGE; HISTIDINE; HUMANS; INCIDENCE; MUTATION, MISSENSE; RESEARCH DESIGN; SEVERITY OF ILLNESS INDEX; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

MLCS; MLOWN;

EID: 84879719268     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-12-471672     Document Type: Article

References (15)

1. Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia. 2008;14(2):171-232. (Pubitemid 351343618)
2. Kitchen S, Jennings I, Woods TA, Kitchen DP, Walker ID, Preston FE. Laboratory tests for measurement of von Willebrand factor show poor agreement among different centers: results from the United Kingdom National External Quality Assessment Scheme for Blood Coagulation. Semin Thromb Hemost. 2006;32(5):492-498. (Pubitemid 44157387)
3. Meijer P, Haverkate F. An external quality assessment program for von Willebrand factor laboratory analysis: an overview from the European concerted action on thrombosis and disabilities foundation. Semin Thromb Hemost. 2006;32(5):485-491. (Pubitemid 44157386)
4. Sadler JE. Redeeming ristocetin. Blood. 2010;116(2):155-156.
5. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987;69(6):1691-1695. (Pubitemid 17091627)
6. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood. 2003;101(6):2089-2093. (Pubitemid 36302041)
7. Flood VH, Gill JC, Morateck PA, et al. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. Blood. 2010;116(2):280-286.
8. Bellissimo DB, Christopherson PA, Flood VH, et al. VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. Blood. 2012;119(9):2135-2140.
9. Goodeve A, Eikenboom J, Castaman G, et al. 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). Blood. 2007;109(1):112-121. (Pubitemid 46053051)
10. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood. 2007;109(1):145-154. (Pubitemid 46053055)
11. Flood VH, Gill JC, Christopherson PA, et al. Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease. J Thromb Haemost. 2012;10(7):1425-1432.
12. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006;4(4):766-773.
13. Crawford JA, Dietrich JE, Hui SKR, Friedman KD, Mahoney D, Lakshmi V. Patients with bleeding phenotype and von Willebrand exon 28 polymorphism D1472H: a retrospective analysis at a single institution. Blood. 2012;120(21):Abstract 100.
14. Hulstein JJ, de Groot PG, Silence K, Veyradier A, Fijnheer R, Lenting PJ. A novel nanobody that detects the gain-of-function phenotype of von Willebrand factor in ADAMTS13 deficiency and von Willebrand disease type 2B. Blood. 2005;106(9):3035-3042. (Pubitemid 41565896)
15. Flood VH, Gill JC, Morateck PA, et al. Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD. Blood. 2011;117(6):e67-e74.