Notice: Function _load_textdomain_just_in_time was called incorrectly. Translation loading for the google-analytics-for-wordpress domain was triggered too early. This is usually an indicator for some code in the plugin or theme running too early. Translations should be loaded at the init action or later. Please see Debugging in WordPress for more information. (This message was added in version 6.7.0.) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php on line 6114 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 {"id":249,"date":"2017-01-30T14:21:58","date_gmt":"2017-01-30T14:21:58","guid":{"rendered":"http:\/\/bloodgenetics.com\/?page_id=249"},"modified":"2024-07-08T06:04:51","modified_gmt":"2024-07-08T06:04:51","slug":"estudio-hiperferritinemia-hereditaria-cataratas-exon-1-ftl-codigo-20050","status":"publish","type":"page","link":"https:\/\/bloodgenetics.com\/estudio-hiperferritinemia-hereditaria-cataratas-exon-1-ftl-codigo-20050\/","title":{"rendered":"Estudio de Hiperferritinemia Hereditaria con Cataratas (C\u00f3digo 20050)"},"content":{"rendered":"

[vc_row type=”vc_default” bg_type=”bg_color” bg_override=”full” css=”.vc_custom_1517834630488{border-bottom-width: -70px !important;padding-top: 30px !important;padding-bottom: 40px !important;}” bg_color_value=”#f7f7f7″][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

Estudio de Hiperferritinemia Hereditaria con Cataratas (C\u00f3digo 20050)<\/strong><\/p>\n

La ferritina es la prote\u00edna responsable del almacenamiento y la distribuci\u00f3n intracelular del hierro. Se compone de dos subunidades llamadas L-ferritina y H-ferritina. La s\u00edntesis de estas subunidades est\u00e1 controlada por prote\u00ednas reguladoras llamadas prote\u00ednas reguladoras de hierro (IRP) que se unen a un elemento regulador denominado elemento sensible al hierro (IRE) presente en el 5’UTR del ARNm de cada una de estas dos subunidades.<\/p>\n

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El s\u00edndrome de hiperferritinemia hereditaria con\u00a0cataratas<\/strong> (HHCS) (OMIM # 600886) se caracteriza por niveles elevados de ferritina s\u00e9rica sin sobrecarga de hierro con cataratas cong\u00e9nitas y una herencia autos\u00f3mica dominante. La producci\u00f3n excesiva de ferritina se debe a mutaciones en el elemento regulador llamado elemento sensible al hierro (IRE) en la ferritina L (FTL). M\u00faltiples mutaciones en el IRE de la Ferritina L han sido descritas como causantes de HHCS (Luscieti et al., 2013). El exceso de ferritina se acumula en la lente ocular lo que conduce al desarrollo de cataratas. El grado de afectaci\u00f3n var\u00eda incluso entre individuos con la misma mutaci\u00f3n. Un diagn\u00f3stico gen\u00e9tico correcto de esta enfermedad es importante, ya que a menudo se confunde con hemocromatosis hereditaria debido a los altos niveles de ferritina s\u00e9rica presentes en ambas enfermedades. Este s\u00edndrome se\u00a0describi\u00f3 por primera vez en 1995 (OMIM # 600886).<\/p>\n

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Referencias<\/strong><\/p>\n

    \n
  • Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nature Genet. 11: 444-446, 1995. [PubMed: 7493028]<\/li>\n
  • Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Brit. J. Haemat. 90: 931-934, 1995. [PubMed: 7669675]<\/li>\n
  • Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Mor\u00e1n \u00c9, Muckenthaler MU,S\u00e1nchez M. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet J Rare Dis. 8:30, 2013. [PubMed PMID: 23421845<\/li>\n<\/ul>\n

    [\/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” css=”.vc_custom_1517834630488{border-bottom-width: -70px !important;padding-top: 30px !important;padding-bottom: 40px !important;}” bg_color_value=”#f7f7f7″][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text]Estudios Gen\u00e9ticos por Sanger Estudio de Hiperferritinemia Hereditaria con Cataratas (C\u00f3digo 20050) La ferritina es la prote\u00edna responsable del almacenamiento y la distribuci\u00f3n intracelular del hierro. Se compone de dos subunidades llamadas L-ferritina y H-ferritina. La s\u00edntesis de estas subunidades est\u00e1 controlada por prote\u00ednas…<\/p>\n","protected":false},"author":2,"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-249","page","type-page","status-publish","hentry","description-off"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/249","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\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/comments?post=249"}],"version-history":[{"count":10,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/249\/revisions"}],"predecessor-version":[{"id":1957,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/249\/revisions\/1957"}],"wp:attachment":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/media?parent=249"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}