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[vc_row type=”vc_default” bg_type=”bg_color” bg_override=”full”][vc_column]

SOLICITAR ESTUDIO<\/span><\/a><\/div>[\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text]Estudios Gen\u00e9ticos por Sanger<\/strong><\/p>\n

Beta-talasemia y Anemia Drepanoc\u00edtica (HBB) (C\u00f3digo 20052)<\/strong><\/p>\n

La Anemia Drepanoc\u00edtica o Anemia de C\u00e9lulas Falciforme (ACF)<\/strong>, una variante severa de la enfermedad de c\u00e9lulas falciformes (ECF), es un trastorno gen\u00e9tico que resulta en anemia grave, mayor riesgo de infecciones bacterianas y bloqueos en los vasos sangu\u00edneos. Esta condici\u00f3n afecta a los gl\u00f3bulos rojos, provocando problemas en su forma y flexibilidad, y esto es lo que conduce a bloqueos en los vasos sangu\u00edneos.<\/p>\n

 <\/p>\n

Esta forma de ECF, causada por una mutaci\u00f3n en homocigosis del gen de la hemoglobina B (HBB) (rs334) que produce la hemoglobina falciforme (HbS), se manifiesta despu\u00e9s de los 3 meses de vida (antes existen valores elevados de Hemoglobina fetal) y puede generar complicaciones como anemia severa, infecciones y bloqueos sangu\u00edneos dolorosos en \u00e1reas como el abdomen, t\u00f3rax o esqueleto. Con el tiempo, estos accidentes vaso oclusivos pueden afectar la funci\u00f3n de \u00f3rganos y tejidos.<\/p>\n

 <\/p>\n

En condiciones de hipoxia la HbS polimeriza, alterando la forma y funci\u00f3n de los eritrocitos, lo que desencadena una cascada de eventos que resulta en hem\u00f3lisis y oclusi\u00f3n vascular, reducci\u00f3n de la disponibilidad de \u00f3xido n\u00edtrico y da\u00f1o endotelial. Tambi\u00e9n existen otras formas de ACF que obedecen a una heterocigosis compuesta del gen de la HbS con otras variantes de la hemoglobina B.<\/p>\n

 <\/p>\n

El diagn\u00f3stico se basa en pruebas espec\u00edficas de hemoglobina, an\u00e1lisis gen\u00e9tico molecular y cribado gen\u00e9tico para la prevenci\u00f3n. La herencia de esta condici\u00f3n sigue un patr\u00f3n autos\u00f3mico recesivo, lo que significa que las parejas portadoras tienen un 25% de probabilidad de tener un hijo afectado en cada embarazo.<\/p>\n

 <\/p>\n

El cuidado desde el nacimiento implica la prevenci\u00f3n de infecciones, manejo del dolor y apoyo multidisciplinario en centros especializados. Tratamientos como hidroxicarbamida, transfusiones y, en casos graves, trasplante de m\u00e9dula \u00f3sea son opciones disponibles. Se est\u00e1n evaluando otras terapias en ensayos cl\u00ednicos (incluido la L-glutamina, el crizanlizumab y el voxelotor)<\/p>\n

 <\/p>\n

El pron\u00f3stico es variable y dif\u00edcil de predicir, con riesgos de infecciones agudas y otras complicaciones graves (secuestro espl\u00e9nico, accidentes vaso oclusivos graves, fallo de \u00f3rganos vitales) que pueden ser fatales.[\/vc_column_text][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"

[vc_row type=”vc_default” bg_type=”bg_color” bg_override=”full”][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text]Estudios Gen\u00e9ticos por Sanger Beta-talasemia y Anemia Drepanoc\u00edtica (HBB) (C\u00f3digo 20052) La Anemia Drepanoc\u00edtica o Anemia de C\u00e9lulas Falciforme (ACF), una variante severa de la enfermedad de c\u00e9lulas falciformes (ECF), es un trastorno gen\u00e9tico que resulta en anemia grave, mayor riesgo de infecciones bacterianas y bloqueos en los vasos sangu\u00edneos. Esta condici\u00f3n…<\/p>\n","protected":false},"author":7,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_oct_exclude_from_cache":false,"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_uf_show_specific_survey":0,"_uf_disable_surveys":false,"footnotes":""},"class_list":["post-2594","page","type-page","status-publish","hentry","description-off"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2594","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/comments?post=2594"}],"version-history":[{"count":27,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2594\/revisions"}],"predecessor-version":[{"id":3194,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2594\/revisions\/3194"}],"wp:attachment":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/media?parent=2594"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}