Update on Molecular Testing in von Willebrand Disease
Por:
Batlle, J, Perez-Rodriguez, A, Corrales, I, Borras, N, Pinto, J, Lopez-Fernandez, M, Vidal, F, Cid, A, Bonanad, S, Parra, R, Mingot-Castellano, M, Navarro, N, Altisent, C, Perez-Montes, R, Marcellini, S, Moreto, A, Herrero, S, Soto, I, Bernardo-Gutierrez, A, Mosteirin, N, Jimenez-Yuste, V, Alonso, N, Jacob, A, Fontanes, E, Campos, R, Paloma, M, Bermejo, N, Berrueco, R, Mateo, J, Arribalzaga, K, Marco, P, Palomo, A, Quismondo, N, Inigo, B, Nieto, M, Vidal, R, Martinez, M, Aguinaco, R, Tenorio, M, Ferreiro, M, Garcia-Frade, J, Rodriguez-Huerta, A, Cuesta, J, Rodriguez-Gonzalez, R, Garcia-Candel, F, Dobon, M, Aguilar, C, Bastida, J, Nunez, R, Aguirre, M, Rodriguez-Luaces, M, Gordillo, M, de Cos, C, Torres, L and Batlle, F
Publicada:
1 oct 2019
Resumen:
Diagnosis of von Willebrand disease (VWD) depends on personal and family history of bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD contain potential sources for error that may distort results. Despite an exponential growth of information about the von Willebrand factor gene ( VWF ), the role of molecular diagnosis in VWD is still controversial. Due to the complexity and high cost of conventional molecular analyses, some investigators have recommended limiting this approach to distinguish suspected type 2N VWD from hemophilia A, type 2B from platelet-type VWD, and the exploration of type 3 VWD. New genetic methodologies and approaches are becoming available, but there is still some reluctance for their implementation in VWD diagnosis. This article discusses the pros and cons of molecular testing in VWD considering the experience obtained through the multicenter project "Molecular and Clinical Profile of VWD in Spain (PCM-EVW-ES)."
Filiaciones:
Batlle, J:
Complexo Hosp Univ ACoruna, Serv Hematol, La Coruna, Spain
Perez-Rodriguez, A:
Complexo Hosp Univ ACoruna, Serv Hematol, La Coruna, Spain
Corrales, I:
Banc Sang iTeixits, Barcelona, Spain
UAB, VHIR, Medicinatransfus, Barcelona, Spain
Borras, N:
Banc Sang iTeixits, Barcelona, Spain
UAB, VHIR, Medicinatransfus, Barcelona, Spain
Pinto, J:
Complexo Hosp Univ ACoruna, Serv Hematol, La Coruna, Spain
Lopez-Fernandez, M:
Complexo Hosp Univ ACoruna, Serv Hematol, La Coruna, Spain
Vidal, F:
Banc Sang iTeixits, Barcelona, Spain
UAB, VHIR, Medicinatransfus, Barcelona, Spain
CIBER Enfermedades Cardiovasc CIBERCV, Barcelona, Spain
Cid, A:
Hosp Univ Politecn Fe, S Hematol, Valencia, Spain
Bonanad, S:
Hosp Univ Politecn Fe, S Hematol, Valencia, Spain
Parra, R:
Banc Sang iTeixits, Barcelona, Spain
UAB, VHIR, Medicinatransfus, Barcelona, Spain
Mingot-Castellano, M:
Hosp Reg Univ Malaga, S Hematol, Malaga, Spain
Navarro, N:
Hosp Univ Dr Negrin, S Hematol, Las Palmas Gran Canaria, Spain
Altisent, C:
Hosp Univ Vall dHebron, S Hematol, Barcelona, Spain
Perez-Montes, R:
Hosp Univ Marques Valdecilla, S Hematol, Santander, Spain
Marcellini, S:
Salud Castilla & Leon, S Hematol, Segovia, Spain
Moreto, A:
Hosp Univ Cruces, S Hematol, Baracaldo, Spain
Herrero, S:
Hosp Univ Guadalajara, S Hematol, Guadalajara, Spain
Soto, I:
Hosp Univ Cent Asturias, S Hematol, Oviedo, Spain
Bernardo-Gutierrez, A:
Hosp Univ Cent Asturias, S Hematol, Oviedo, Spain
Mosteirin, N:
Hosp Univ Miguel Servet, S Hematol, Zaragoza, Spain
Jimenez-Yuste, V:
Hosp Univ La Paz, S Hematol, Madrid, Spain
Alonso, N:
Hosp Infanta Cristina, S Hematol, Badajoz, Spain
Jacob, A:
Complexo Hosp Univ Santiago De Compostela, S Hematol, Santiago De Compostela, Spain
Fontanes, E:
Hosp Univ Lucus Augusti, S Hematol, Lugo, Spain
Campos, R:
Hosp Jerez Frontera, S Hematol, Cadiz, Spain
Paloma, M:
Hosp Virgen Camino, S Hematol, Pamplona, Spain
Bermejo, N:
Hosp San Pedro Alcantara, S Hematol, Caceres, Spain
Berrueco, R:
Hosp St Joan Deu, S Hematol, Barcelona, Spain
Mateo, J:
Hosp Sta Creu & St Pau, S Hematol, Barcelona, Spain
Arribalzaga, K:
Hosp Univ Fdn Alcorcon, S Hematol, Madrid, Spain
:
Hosp Gen Alicante, S Hematol, Alicante, Spain
Palomo, A:
Hosp Reg Univ Malaga, S Hematol, Malaga, Spain
Quismondo, N:
Hosp Univ 12 Octubre, S Hematol, Madrid, Spain
Inigo, B:
Hosp Clin San Carlos, S Hematol, Madrid, Spain
Nieto, M:
Complejo Hosp Jaen, S Hematol, Jaen, Spain
Vidal, R:
Fdn Jimenez Diaz, S Hematol, Madrid, Spain
Martinez, M:
Hosp Nuestra Sra Sonsoles, S Hematol, Avila, Spain
Aguinaco, R:
Hosp Joan 23, S Hematol, Tarragona, Spain
Tenorio, M:
Hosp Ramon & Cajal, S Hematol, Madrid, Spain
Ferreiro, M:
Hosp Montecelo, S Hematol, Pontevedra, Spain
Garcia-Frade, J:
Hosp Rio Hortega, S Hematol, Valladolid, Spain
Rodriguez-Huerta, A:
Hosp Gregorio Maranon, S Hematol, Madrid, Spain
Cuesta, J:
Hosp Virgen Salud, S Hematol, Toledo, Spain
Rodriguez-Gonzalez, R:
Hosp Severo Ochoa, S Hematol, Madrid, Spain
Garcia-Candel, F:
Hosp Univ Virgen Arrixaca, S Hematol, Murcia, Spain
Dobon, M:
Hosp Lozano Blesa, S Hematol, Zaragoza, Spain
Aguilar, C:
Hosp Santa Barbara, S Hematol, Soria, Spain
Bastida, J:
Hosp Univ, S Hematol, Salamanca, Spain
Nunez, R:
Hosp Univ Virgen Rocio, S Hematol, Seville, Spain
Aguirre, M:
Hosp Univ Donostia, S Hematol, San Sebastian, Spain
Rodriguez-Luaces, M:
Hosp Verge Cinta, S Hematol, Tortosa, Spain
Gordillo, M:
Hosp Doctor Jose Molina Orosa, S Hematol, Lanzarote, Spain
de Cos, C:
Hosp Univ Puerta Mar, S Hematol, Cadiz, Spain
Torres, L:
Complejo Hosp Univ Insular Materno Infantil Canar, S Hematol, Las Palmas Gran Canaria, Spain
Batlle, F:
Lapisoft SA, Dept Res, La Coruna, Spain
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