2019, Número 3
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Rev Hematol Mex 2019; 20 (3)
La existencia de las mutaciones Leiden del factor V y G20210A de la protrombina es infrecuente en pacientes pediátricos mexicanos con hemofilia A grave
Parra-Ortega I, López-Valladares KE, Angeles-Floriano T, Moreno-González AM, López-Martínez B
Idioma: Español
Referencias bibliográficas: 34
Paginas: 198-203
Archivo PDF: 252.01 Kb.
RESUMEN
Antecedentes: Se ha descrito que las características clínicas de la hemofilia A
grave se ven modificadas favorablemente por el efecto de factores protrombóticos,
específicamente las mutaciones Leiden del factor V y la G20210A de la protrombina.
Objetivo: Comunicar los resultados de una serie de pacientes con hemofilia A grave
a los que se les investigó la existencia de las mutaciones Leiden del factor V y la
G20210A de la protrombina.
Pacientes y Método: Estudio prospectivo que de enero de 2008 a diciembre de
2017 incluyó pacientes con diagnóstico de hemofilia A grave, en ellos se investigaron
las mutaciones Leiden del factor V y la G20210A de la protrombina por medio de
reacción en cadena de la polimerasa en tiempo real.
Resultados: Se incluyeron 43 pacientes en los que no se identificaron las mutaciones
Leiden del factor V y la G20210A de la protrombina.
Conclusiones: La existencia de las mutaciones Leiden del factor V y G20210A de la
protrombina es infrecuente en pacientes pediátricos mexicanos con hemofilia A grave.
REFERENCIAS (EN ESTE ARTÍCULO)
Bolton MPH, Pasi KJ. Haemophilia A and B. Lancet 2003;361:1801-1809.
Evatt BL, Back C, Batorova A, Street A, Srivastava A. Comprehensive care for haemphilia around the world. Haemophilia 2004;10:9-13.
Kurnik K, Kreuz W, Horneff S, Düring, C, Schobess R, Bidlingmaier C, et al. Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children – results of a multicenter study. Haematologica 2007;92:982-985.
Tizzano EF, Soria JM, Coll M, Guzman B, Cornet M, Altisent C, et al. The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors. Haematologica 2002;87: 279-285.
Nichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, et al. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 1996;88:1183-7.
Escuriola-Ettingshausen C, Halimeh S, Kurnik K, et al. Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors. Thromb Haemost 2001;85:218-220.
Schlachterman A, Schuettrumpf J, Liu JH, Furlan Freguia C, Toso R, Poncz M, et al. Factor V Leiden improves in vivo hemostasis in murine hemophilia models. J Thromb Haemost 2005;3:2730-2737.
Lee DH, Walker IR, Teitel J, Poon MC, Ritchie B, Akabutu J, et al. Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A. Thromb Haemost 2000;83:387-391.
Veer van’t C, Golden NJ, Kalafatis M, Simioni P, Bertina R, Mann G. An in vitro analysis of the combination of hemophilia A and factor V Leiden. Blood 1997;90:3067-3072.
Parra-Ortega I, Jonguitud-Díaz V, López-Martines B, González- Ávila I y col. Investigación de las mutaciones Leiden del factor V y G20210A de la protrombina en pacientes pediátricos con hemofilia A grave. Informe preliminar. Med Univ 2009;11(42):5-7.
Moreno A, Sandoval K. Diversidad genómica en México: Pasado indígena y mestizaje. Cuicuilco 2013;20(58):249-275.
Majluf-Cruz A, Moreno-Hernández M, Ruiz-de-Chávez- Ochoa A, et al. Activated protein C resistance and factor V Leiden in Mexico. Clin Appl Thromb Hemost 2008;14:428- 37.
Vallejo-Villalobos MF, León-Peña A, León-González M, Núñez-Cortés AK, Olivares-Gazca JC, Valdés-Tapia P, Garcés-Eisele J, Ruiz-Argüelles A, Ruiz-Argüelles GJ. Primary thrombophilia in Mexico XI: Activated protein C resistance phenotypes are multifactorial. Indian J Hematol Blood Transfus 2017;33:375-379.
Lacayo-Leñero D, Hernández-Hernández D, Valencia- Martínez A, Barrales-Benítez O, Vargas-Ruiz AG. Primary thrombophilia in Mexico: a single tertiary referral hospital experience. Blood Coagul Fibrinolysis 2016;27:920-924.
Jaloma-Cruz AR Beltrán-Miranda CP, González-Ramos IA, López-Jiménez, Luna-Záiza RH, Mantilla-Capacho JM, Mundo- Ayala JN, Valdés Galván MJ. Genotype-phenotype interaction analyses in hemophilia. Hemophilia 2012;15-32.
López-Jiménez JJ, Beltrán-Miranda CP, Mantilla-Capacho JM, Esparza-Flores MA, López González LC, Jaloma-Cruz AR. Clinical variability of haemophilia A and B in Mexican families by factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T/A1298C. Haemophilia 2009 Electronic publication ahead of print.
Beltrán-Miranda CP, Khan A, Jaloma-Cruz AR, Laffan MA. Thrombin generation and phenotypic correlation in haemophilia. Haemophilia 2005;11:326-34.
Franchini M, Lippi G. Factor V Leiden and hemophilia. Thromb Res 2010;125:119-23.
Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among “severe” hemophiliacs with a “milder” bleeding diathesis. Thromb Haemost 1995;74:1255-8.
Arruda VR, Annichino-Bizzachi JM, Costa FF. Association of severe hemophilia A and factor V Leiden. A report of three cases. Haemophilia 1996;2:51-3.
Vianello F, Belvini D, Dal Bello F, Tagariello G, Zanon E, Lombardi AM, et al. Mild bleeding diathesis in a boy with combined severe haemophilia B (C10400→T) and heterozygous factor V Leiden. Haemophilia 2001;7:511-4.
Ghosh K, Shetty S, Mohanty D. Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay. Haemophilia 2001;7:9-12.
Petkova R, Chakarov S, Horvath A, Ganev V, Kremensky I. Coexistence of a common prothrombotic risk factor and hemophilia in the Bulgarian hemophilic population: genotype/phenotype correlations. Balk J Med Genet 2001;4:37-40.
Grünewald M, Siegemund A, Grünewald A, Konegan A, Koksch M, Griesshammer M. Paradoxical hyperfibrinolysis is associated with a more intensely haemorrhagic phenotype in severe congenital haemophilia. Haemophilia 2002;8:768-75.
Vezendi K, Tapai K, Erdodi E, Szabò I, Tomek A, Oszlacs J, et al. Thrombophilicmarkers in patients with congenital bleeding disorders. Haematologia 2002;32:467-73.
Ahmed R, Kannan M, Choudhry VP, Saxena R. Does the MTHFR 677 T allele alter the clinical phenotype in severe haemophilia A? Thromb Res 2003;109:71-2.
Araújo F, Fraga M, Henriques I, Monteiro F, Meireles E, Pereira C, et al. The clinical phenotype modulation of haemophilia by prothrombotic gene mutations. Haemophilia 2003;9:235-6.
Ar MC, Baykara O, Buyru AN, Baslar Z. The impact of prothrombotic mutations on factor consumption in adult patients with severe hemophilia. Clin Appl Thromb Hemost 2008;6:660-665.
Schulman S, Eelde A, Holmström M, Ståhlberg G, Odeberg J, Blombäck M. Validation of a composite score for clinical severity of hemophilia. J Thromb Haemost 2008;6:1113-21.
Jayandharan GR, Srivastava A. The phenotypic heterogeneity of severe hemophilia. Semin Thromb Hemost 2008;34:128-141.
Nogami K, Shima M. Phenotypic heterogeneity of hemostasis in severe hemophilia. Semin Thromb Hemost 2015;41:826-31.
Shetty S, Vora S, Kulkarni B, Mota L, Vijapurkar M, Quadros L, et al. Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of haemophilia patients. Br J Haematol 2007;138:541-4.
Jayandharan GR, Srivastava A. the phenotypic heterogeneity of severe hemophilia. Semin Thromb Hemost 2008;34:128-141.
van Dijk K, Fischer K, van der Bom JG, Grobbee DE, van den Berg HM. Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed. Haemophilia 2005;11(5):438-443.