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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 M4, 5 ; Badiee Z6 ; Baghaipour MR7 ; Benitez O8 ; Bodo I9 ; Budde U10 ; Cairo A1 ; Castaman G11 ; Eshghi P5 ; Goudemand J12 Show All Authors
Authors
  1. Baronciani L1
  2. Peake I2
  3. Schneppenheim R3
  4. Goodeve A2
  5. Ahmadinejad M4, 5
  6. Badiee Z6
  7. Baghaipour MR7
  8. Benitez O8
  9. Bodo I9
  10. Budde U10
  11. Cairo A1
  12. Castaman G11
  13. Eshghi P5
  14. Goudemand J12
  15. Hassenpflug W3
  16. Hoorfar H13
  17. Karimi M14
  18. Keikhaei B15
  19. Lassila R16
  20. Leebeek FWG17
  21. Fernandez MFL18
  22. Mannucci PM1
  23. Marino R19
  24. Niksic N2
  25. Oyen F3
  26. Santoro C20
  27. Tiede A21
  28. Toogeh G22
  29. Tosetto A23
  30. Trossaert M24
  31. Zetterberg EMK25
  32. Eikenboom J26
  33. Federici AB27
  34. Peyvandi F1, 28

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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1. Von Willebrand Factor Propeptide and Pathophysiological Mechanisms in European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in the 3Winters-Ips Study, Journal of Thrombosis and Haemostasis (2022)
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3. Bleeding Symptoms in Patients Diagnosed As Type 3 Von Willebrand Disease: Results From 3Winters-Ips, an International and Collaborative Cross-Sectional Study, Journal of Thrombosis and Haemostasis (2020)
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