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2011, Número 2

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Rev Hematol Mex 2011; 12 (2)


Primary thrombophilia in México VIII: Description of five kindreds of familial sticky platelet syndrome phenotype

Ruiz-Argüelles GJ, Alarcón-Urdaneta C, Calderón-García J, Ruiz-Delgado GJ

Idioma: Ingles.
Referencias bibliográficas: 35
Paginas: 73-78
Archivo PDF: 159.08 Kb.


RESUMEN

Antecedentes: el síndrome de las plaquetas pegajosas es la segunda trombofilia identificada en México, sólo superada por la mutación 677 C- ›T en el gen 5,10 –metien-tetrahidrofolato-reductasa. Aproximadamente el 50% de los mestizos mexicanos con un marcador clínico de trombofilia hereditaria tienen el fenotipo del síndrome de las plaquetas pegajosas, frecuentemente asociado con otras trombofilias
Objetivo: presentar cinco casos de pacientes con fenotipo de las plaquetas pegajosas en varios miembros de dos generaciones.
Material y métodos: se estudiaron los propositii porque tuvieron marcadores clínicos de un estado trombofílico primario y, además, habían padecido un episodio vaso-oclusivo.
Resultados: el fenotipo MSF se estudió prospectivamente en dos generaciones en estos cinco propositii, en algunos casos asociados con otras enfermedades proclives a la trombosis.
Conclusiones: los estudios de la familia sugieren que el síndrome de las plaquetas pegajosas puede tener un origen genético y heredarse como un rasgo autosómico dominante.


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