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

Author:

Flood Veronica H.12,Friedman Kenneth D.3,Gill Joan Cox1234,Haberichter Sandra L.123,Christopherson Pamela A.3,Branchford Brian R.15,Hoffmann Raymond G.6,Abshire Thomas C.1237,Dunn Amy L.7,Di Paola Jorge A.58,Hoots W. Keith910,Brown Deborah L.9,Leissinger Cindy11,Lusher Jeanne M.12,Ragni Margaret V.13,Shapiro Amy D.14,Montgomery Robert R.123

Affiliation:

1. Department of Pediatrics, Division of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI;

2. Children’s Research Institute, Children’s Hospital of Wisconsin, Milwaukee, WI;

3. Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;

4. Zimmerman Program Clinical Center, Medical College of Wisconsin, Milwaukee, WI;

5. University of Colorado School of Medicine, Aurora, CO;

6. Department of Pediatrics, Division of Quantitative Health Sciences, Medical College of Wisconsin, Milwaukee, WI;

7. Aflac Cancer Center and Blood Disorders Service, Emory University School of Medicine, Atlanta, GA;

8. University of Iowa, Iowa City, IA;

9. University of Texas Health Science Center, Houston, TX;

10. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD;

11. Tulane University School of Medicine, New Orleans, LA;

12. Children’s Hospital of Michigan, Detroit, MI;

13. University of Pittsburgh, Pittsburgh, PA; and

14. Indiana Hemophilia and Thrombosis Center, Indianapolis, IN

Abstract

Key Points D1472H sequence variation is associated with a decreased VWF:RCo/VWF:Ag ratio in type 1 VWD subjects. D1472H sequence variation is not associated with an increase in bleeding as measured by bleeding score in type 1 VWD subjects.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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