{"id":43927,"date":"2024-04-17T10:31:51","date_gmt":"2024-04-17T08:31:51","guid":{"rendered":"https:\/\/canfali.com\/dra-rosa-ferrer-hematloga-del-hospital-hla-san-carlos-la-identificacin-precisa-de-los-genes-de-la-hemofilia-facilita-el-asesoramiento-gentico-la-planificacin-familiar\/"},"modified":"2025-02-25T10:05:31","modified_gmt":"2025-02-25T09:05:31","slug":"dra-rosa-ferrer-hematloga-del-hospital-hla-san-carlos-la-identificacin-precisa-de-los-genes-de-la-hemofilia-facilita-el-asesoramiento-gentico-la-planificacin-familiar","status":"publish","type":"post","link":"https:\/\/canfali.com\/ca-es\/dra-rosa-ferrer-hematloga-del-hospital-hla-san-carlos-la-identificacin-precisa-de-los-genes-de-la-hemofilia-facilita-el-asesoramiento-gentico-la-planificacin-familiar\/","title":{"rendered":"Dra. Rosa Ferrer, hemat\u00f3loga del hospital HLA San Carlos: \u201cLa identificaci\u00f3n precisa de los genes de la hemofilia facilita el asesoramiento gen\u00e9tico y la planificaci\u00f3n familiar\u201d"},"content":{"rendered":"<p>Este mi&eacute;rcoles se conmemora&nbsp;el D&iacute;a Mundial de la Hemofilia, una fecha destinada a crear conciencia sobre esta enfermedad hereditaria poco com&uacute;n pero potencialmente devastadora. En este d&iacute;a se&ntilde;alado no s&oacute;lo se busca educar al p&uacute;blico en general sobre la hemofilia y otras enfermedades que afecten a la coagulaci&oacute;n sangu&iacute;nea, sino tambi&eacute;n poner el foco en pacientes que conviven con la enfermedad y sus familias.<\/p>\n<p>La hemofilia es un trastorno hemorr&aacute;gico hereditario que se caracteriza por la deficiencia o disfunci&oacute;n de ciertos factores de coagulaci&oacute;n -en el caso de la Hemofilia de tipo A ser&iacute;a el factor VIII y en el caso de la Hemofilia de tipo B, el factor IX- lo que conlleva a una mayor propensi&oacute;n a sufrir sangrados prolongados y en una escala m&aacute;s grave, potencialmente mortales. La hemofilia se caracteriza por trastornos en la coagulaci&oacute;n de la sangre, provocando una tendencia a sufrir hemorragias prolongadas o excesivas, incluso antes lesiones menores.&nbsp;<\/p>\n<p>Seg&uacute;n la Federaci&oacute;n Espa&ntilde;ola de Hemofilia, se estima que en Espa&ntilde;a existen alrededor de 3.000 persona.s diagnosticadas con esta enfermedad, afectando principalmente a los hombres. Esto se debe a que la herencia gen&eacute;tica de esta patolog&iacute;a se asocia al cromosoma X. Los hombres, al tener s&oacute;lo un cromosoma de este tipo, si se encuentra da&ntilde;ado, se acabar&aacute; desarrollando la enfermedad<\/p>\n<p>La Dra. Rosa Ferrer, especialista en hematolog&iacute;a del Hospital HLA San Carlos explica que, &ldquo;las pruebas gen&eacute;ticas y moleculares, han permitido una identificaci&oacute;n m&aacute;s precisa de los genes responsables de la hemofilia lo que facilita el asesoramiento gen&eacute;tico y la planificaci&oacute;n familiar. Adem&aacute;s, el desarrollo de t&eacute;cnicas de diagn&oacute;stico precoz ha permitido intervenir tempranamente en la enfermedad minimizando el riesgo de complicaciones como las artropat&iacute;as, o lo que conviven con otras patolog&iacute;as&rdquo;.<\/p>\n<p>Es importante que el p&uacute;blico en general comprenda la hemofilia y sus implicaciones para recibir un diagn&oacute;stico y tratamiento adecuado. Los especialistas son ambiciosos y tienen unos objetivos de protecci&oacute;n cada vez m&aacute;s altos. Gracias a las nuevas terapias, se alcanza un 70 % de sangrado cero. Adem&aacute;s, con los tratamientos que est&aacute;n por llegar en el futuro, se pretende conseguir una normalizaci&oacute;n hemostasia.<\/p>\n<p>&ldquo;Los avances m&aacute;s destacados en cuanto al tratamiento de la hemofilia han sido en el terreno de la terapia de reemplazo de factores de coagulaci&oacute;n. Adem&aacute;s de este tipo de terapia, se han desarrollado otras estrategias terap&eacute;uticas innovadoras, como los inhibidores de la coagulaci&oacute;n&rdquo;, a&ntilde;ade la Dra. Ferrer.<\/p>\n<p>En definitiva, los avances en el diagn&oacute;stico y el tratamiento de la hemofilia pretenden transformar la gesti&oacute;n de esta enfermedad por parte de los pacientes, brindando nuevas esperanzas e intentar mejorar su calidad de vida.<\/p>\n","protected":false},"excerpt":{"rendered":"Este mi&eacute;rcoles se conmemora&nbsp;el D&iacute;a Mundial de la Hemofilia, una fecha destinada a crear conciencia sobre esta enfermedad&hellip;","protected":false},"author":2,"featured_media":24615,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"csco_display_header_overlay":false,"csco_singular_sidebar":"","csco_page_header_type":"","csco_page_load_nextpost":"","csco_post_video_location":[],"csco_post_video_location_hash":"","csco_post_video_url":"","csco_post_video_bg_start_time":0,"csco_post_video_bg_end_time":0,"footnotes":""},"categories":[594],"tags":[],"class_list":["post-43927","post","type-post","status-publish","format-standard","has-post-thumbnail","category-societat","cs-entry","cs-video-wrap"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.6 (Yoast SEO v27.3) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Dra. 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