Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips

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Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips Publisher Pubmed

Baronciani L¹ ; Peake I² ; Schneppenheim R³ ; Goodeve A² ; Ahmadinejad M^{4, 5} ; Badiee Z⁶ ; Baghaipour MR⁷ ; Benitez O⁸ ; Bodo I⁹ ; Budde U¹⁰ ; Cairo A¹ ; Castaman G¹¹ ; Eshghi P⁵ ; Goudemand J¹² Show All Authors

Baronciani L¹
Peake I²
Schneppenheim R³
Goodeve A²
Ahmadinejad M^{4, 5}
Badiee Z⁶
Baghaipour MR⁷
Benitez O⁸
Bodo I⁹
Budde U¹⁰
Cairo A¹
Castaman G¹¹
Eshghi P⁵
Goudemand J¹²
Hassenpflug W³
Hoorfar H¹³
Karimi M¹⁴
Keikhaei B¹⁵
Lassila R¹⁶
Leebeek FWG¹⁷
Fernandez MFL¹⁸
Mannucci PM¹
Marino R¹⁹
Niksic N²
Oyen F³
Santoro C²⁰
Tiede A²¹
Toogeh G²²
Tosetto A²³
Trossaert M²⁴
Zetterberg EMK²⁵
Eikenboom J²⁶
Federici AB²⁷
Peyvandi F^{1, 28}

Show Affiliations

1. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy
2. Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom
3. Department of Pediatric Hematology and Oncology, University Medical Centre, Hamburg-Eppendorf, Hamburg, Germany
4. Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
5. Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
6. Hemophilia-Thalassemia Center, Mashhad University of Medical Science, Mashad, Iran
7. Iranian Hemophilia Comprehensive Treatment Centre, Tehran, Iran
8. Hemophilia Unit, University Vall d'Hebron Hospital, Barcelona, Spain
9. Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary
10. Hemostaseology Medilys Laborgesellschaft mbH, Hamburg, Germany
11. Center for Bleeding Disorders and Coagulation, Careggi University Hospital, Florence, Italy
12. University of Lille, CHU Lille, Haematology and Transfusion, Lille, France
13. Hemophilia Center, Esfahan University of Medical Science, Esfahan, Iran
14. Hematology Research Center, Shiraz University of Medical Science, Shiraz, Iran
15. Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
16. Research Program Unit in Oncology, University of Helsinki, Helsinki University Central Hospital, Coagulation Disorders, Helsinki, Finland
17. Department of Hematology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
18. Complejo Hospitalario Universitario de A Coruna, Servicio de Hematologia y Hemoterapia, A Coruna, Spain
19. Hemophilia and Thrombosis Centre, University Hospital Policlinico, Bari, Italy
20. Hematology, Hemophilia and Thrombosis Center, University Hospital Policlinico Umberto I, Rome, Italy
21. Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany
22. Thrombosis Hemostasis Research Center, Vali-Asr Hospital, Emam Khameini Complex Hospital, Tehran University of Medical Science, Tehran, Iran
23. Hemophilia and Thrombosis Center, Hematology Department, San Bortolo Hospital, Vicenza, Italy
24. Centre Regional de Traitement de l'Hemophilie, Laboratoire d'Hematologie, Nantes, France
25. Skane University Hospital, Malmo, Sweden
26. Department of Internal Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, Netherlands
27. Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Oncology and Oncohematology, University of Milan, Milan, Italy
28. Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Milan, Italy

Source: Blood Advances Published:2021

Abstract

Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive inheritance pattern, and heterogeneous genotype. The objective of this study was to identify the VWF defects in 265 European and Iranian patients with VWD3 enrolled in 3WINTERS-IPS (Type 3 Von Willebrand International Registries Inhibitor Prospective Study). All analyses were performed in centralized laboratories. The VWF genotype was studied in 231 patients with available DNA (121 [115 families] from Europe [EU], and 110 [91 families] from Iran [IR]). Among 206 unrelated patients, 134 were homozygous (EU/IR 5 57/77) and 50 were compound heterozygous (EU/IR 5 43/7) for VWF variants. In 22 patients, no or only one variant was found. A total of 154 different VWF variants (EU/IR 5 101/58 [5 shared]) were identified among the 379 affected alleles (EU/IR 5 210/169), of which 48 (EU/IR 5 18/30) were novel. The variants p.Arg1659*, p.Arg1853*, p.Arg2535*, p.Cys275Ser, and delEx1_Ex5 were found in both European and Iranian VWD3 patients. Sixty variants were identified only in a single allele (EU/IR 5 50/10), whereas 18 were recurrent ($3 patients) within 144 affected alleles. Nine large deletions and one large insertion were found. Although most variants predicted null alleles, 21% of patients carried at least 1 missense variant. VWD3 genotype was more heterogeneous in the European population than in the Iranian population, with nearly twice as many different variants. A higher number of novel variants were found in the Iranian VWD3 patients. © 2021 by The American Society of Hematology

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Style	Citing Format
MLA	Baronciani L, et al.. "Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips." Blood Advances, vol. 5, no. 15, 2021, pp. 2987-3001.
APA	Baronciani L, Peake I, Schneppenheim R, Goodeve A, Ahmadinejad M, Badiee Z, Baghaipour MR, Benitez O, Bodo I, Budde U, Cairo A, Castaman G, Eshghi P, Goudemand J, Hassenpflug W, Hoorfar H, Karimi M, Keikhaei B, Lassila R, ... Peyvandi F (2021). Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips. Blood Advances, 5(15), 2987-3001.
Chicago	Baronciani L, Peake I, Schneppenheim R, Goodeve A, Ahmadinejad M, Badiee Z, Baghaipour MR, et al.. "Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips." Blood Advances 5, no. 15 (2021): 2987-3001.
Harvard	Baronciani L et al. (2021) 'Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips', Blood Advances, 5(15), pp. 2987-3001.
Vancouver	Baronciani L, Peake I, Schneppenheim R, Goodeve A, Ahmadinejad M, Badiee Z, et al.. Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips. Blood Advances. 2021;5(15):2987-3001.
BibTex	@article{ author = {Baronciani L and Peake I and Schneppenheim R and Goodeve A and Ahmadinejad M and Badiee Z and Baghaipour MR and Benitez O and Bodo I and Budde U and Cairo A and Castaman G and Eshghi P and Goudemand J and Hassenpflug W and Hoorfar H and Karimi M and Keikhaei B and Lassila R and Leebeek FWG and Fernandez MFL and Mannucci PM and Marino R and Niksic N and Oyen F and Santoro C and Tiede A and Toogeh G and Tosetto A and Trossaert M and Zetterberg EMK and Eikenboom J and Federici AB and Peyvandi F}, title = {Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips}, journal = {Blood Advances}, volume = {5}, number = {15}, pages = {2987-3001}, year = {2021} }
RIS	TY - JOUR AU - Baronciani L AU - Peake I AU - Schneppenheim R AU - Goodeve A AU - Ahmadinejad M AU - Badiee Z AU - Baghaipour MR AU - Benitez O AU - Bodo I AU - Budde U AU - Cairo A AU - Castaman G AU - Eshghi P AU - Goudemand J AU - Hassenpflug W AU - Hoorfar H AU - Karimi M AU - Keikhaei B AU - Lassila R AU - Leebeek FWG AU - Fernandez MFL AU - Mannucci PM AU - Marino R AU - Niksic N AU - Oyen F AU - Santoro C AU - Tiede A AU - Toogeh G AU - Tosetto A AU - Trossaert M AU - Zetterberg EMK AU - Eikenboom J AU - Federici AB AU - Peyvandi F TI - Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips JO - Blood Advances VL - 5 IS - 15 SP - 2987 EP - 3001 PY - 2021 ER -

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