{"id":76208,"date":"2018-03-09T23:21:35","date_gmt":"2018-03-09T23:21:35","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-la-beta-talasemia-heterocigota-en-el-area-sanitaria-de-lanzarote\/"},"modified":"2018-03-09T23:21:35","modified_gmt":"2018-03-09T23:21:35","slug":"estudio-de-la-beta-talasemia-heterocigota-en-el-area-sanitaria-de-lanzarote","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-de-la-beta-talasemia-heterocigota-en-el-area-sanitaria-de-lanzarote\/","title":{"rendered":"Estudio de la beta-talasemia heterocigota en el \u00e1rea sanitaria de lanzarote"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Calvo Villas Jos\u00e9 Manuel <\/strong><\/h2>\n<p>Los s\u00edndromes talas\u00e9micos incluyen un grupo heterog\u00e9neo de trastornos cuantitativos en la s\u00edntesis de la cadena de globina que condicionan una producci\u00f3n disminuida (+)  o la ausencia total de su s\u00edntesis (0). Su caracterizaci\u00f3n molecular se ha realizado mediante la utilizaci\u00f3n de la reacci\u00f3n en cadena de la polimerasa (pcr) y actualmente se ha obtenido buenos resultados con la pcr a tiempo real.  objetivos  1,- conocer la tasa de preValencia de talasemia heterocigota en la poblaci\u00f3n del \u00e1rea sanitaria de lanzarote.  2,- realizar la caracterizaci\u00f3n molecular de la talasemia heterocigota utilizando el m\u00e9todo de la pcr a tiempo real.  3,- investigar la utilidad del receptor soluble de la transferrina como indicador de eritropoyesis incrementada en portadores heterocigotos de talasemia.  4,- valorar en los portadores de talasemia estudiados si el fenotipo 0 + afecta a los par\u00e1metros hematol\u00f3gicos analizados.  conclusiones  1.- El estudios sistem\u00e1tico de las microcitosis ha sido una estrategia \u00fatil, r\u00e1pida y sencilla en la detecci\u00f3n de portadores de la talasemia heterocigota.  2,- la pcr a tiempo real es un m\u00e9todo \u00fatil en el estudio molecular de las mutaciones m\u00e1s comunes en nuestra \u00e1rea geogr\u00e1fica.  3,- la preValencia de la talasemia heterocigota en lanzarote ha sido de 0,17%, alcanzando un 2,7% en zonas m\u00e1s aisladas como la isla de la graciosa.  4,- la alteraci\u00f3n molecular m\u00e1s prevalente fue la mutaci\u00f3n sin sentido c t en el codon 39. Se describe por primera vez la delecci\u00f3n (-tgga) en los codones 20-21 del primer ex\u00f3n del gen globina como causa de talasemia.  5,- los portadores talas\u00e9micos 0 tienen mayor microcitosis, hipocrom\u00eda y anisocitosis; \u00edndices reticulocitarios y tasa de hba2 superiores y un valor medio m\u00e1s alto del receptor soluble de la transferrina en relaci\u00f3n con los portadores con fenotipo +.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de la beta-talasemia heterocigota en el \u00e1rea sanitaria de lanzarote<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de la beta-talasemia heterocigota en el \u00e1rea sanitaria de lanzarote <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Calvo Villas Jos\u00e9 Manuel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Palmas de gran canaria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/09\/2005<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li> Malcorra Azpiazu Juan  Jos\u00e9<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Luis Hern\u00e1ndez nieto <\/li>\n<li> Gonz\u00e1lez fern\u00e1ndez Fernando ataulfo (vocal)<\/li>\n<li>pedro Moreno ramis (vocal)<\/li>\n<li>teresa Molero labarta (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Calvo Villas Jos\u00e9 Manuel Los s\u00edndromes talas\u00e9micos incluyen un grupo heterog\u00e9neo de trastornos cuantitativos en la s\u00edntesis [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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