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":236,"date":"2017-01-30T14:14:24","date_gmt":"2017-01-30T14:14:24","guid":{"rendered":"http:\/\/bloodgenetics.com\/?page_id=236"},"modified":"2024-07-08T06:08:26","modified_gmt":"2024-07-08T06:08:26","slug":"estudio-inicial-hemocromatosis-exon-4-hfe-codigo-20051","status":"publish","type":"page","link":"https:\/\/bloodgenetics.com\/estudio-inicial-hemocromatosis-exon-4-hfe-codigo-20051\/","title":{"rendered":"Estudio Inicial de Hemocromatosis (mutaci\u00f3n C282Y en gen HFE) (C\u00f3digo 20051)"},"content":{"rendered":"

[vc_row type=”vc_default” bg_type=”bg_color” bg_override=”full” css=”.vc_custom_1495359306464{margin-bottom: -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 Inicial de Hemocromatosis (mutaci\u00f3n C282Y en gen HFE) (C\u00f3digo 20051)<\/strong><\/p>\n

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La hemocromatosis hereditaria (HH) tipo 1<\/strong>, tambi\u00e9n llamada hemocromatosis cl\u00e1sica (OMIM # 235200) es la forma m\u00e1s com\u00fan de HH y se debe principalmente a la mutaci\u00f3n homocig\u00f3tica Cys282Tyr del gen HFE. Este tipo de HH afecta a los hombres m\u00e1s que a las mujeres. Desde el punto de vista cl\u00ednico, la enfermedad comienza entre los 30 y los 50 a\u00f1os de edad.<\/p>\n

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La hemocromatosis tipo 1 causa fatiga cr\u00f3nica, pigmentaci\u00f3n oscura de la piel y puede afectar severamente el h\u00edgado, el p\u00e1ncreas, las articulaciones, los huesos, las gl\u00e1ndulas endocrinas o el coraz\u00f3n, dando lugar a diversas complicaciones que aparecen en la edad adulta, como la fibrosis hep\u00e1tica, cirrosis con riesgo de carcinoma hepatocelular , Diabetes mellitus, artropat\u00eda, osteoporosis, hipogonadismo hipogonadotr\u00f3pico e insuficiencia cardiaca. Las anomal\u00edas bioqu\u00edmicas incluyen niveles s\u00e9ricos elevados de hierro, saturaci\u00f3n de transferrina s\u00e9rica y niveles de ferritina s\u00e9rica. Un an\u00e1lisis gen\u00e9tico que con resultado homocigoto para la mutaci\u00f3n Cys282Tyr confirmar el diagn\u00f3stico de HH de una manera no invasiva.<\/p>\n

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El tratamiento consiste en flebotom\u00eda (drenaje sangu\u00edneo), inicialmente se realizan semanalmente, y posteriormente se reduce la frecuencia de las extracciones de sangre. La hemocromatosis tipo 1 tiene un pron\u00f3stico muy bueno si se diagnostica tempranamente y si se trata adecuadamente antes del desarrollo de complicaciones graves.<\/p>\n

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

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  • Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Jr., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., and 21 others. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13: 399-408, 1996. [PubMed: 8696333]<\/li>\n
  • S\u00e1nchez M, Bruguera M, Bosch J, Rod\u00e9s J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol. 1998 Nov;29(5):725-8. [PubMed: 9833909].<\/li>\n
  • S\u00e1nchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rod\u00e9s J, Oliva R.Hereditary hemochromatosis in Spain. Genet Test. 2000;4(2):171-6. [PubMed: 10953957].<\/li>\n
  • S\u00e1nchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, Oliva R. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol. 2003 Jun;38(6):745-50. [PubMed: 12763366].<\/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_1495359306464{margin-bottom: -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 Inicial de Hemocromatosis (mutaci\u00f3n C282Y en gen HFE) (C\u00f3digo 20051)   La hemocromatosis hereditaria (HH) tipo 1, tambi\u00e9n llamada hemocromatosis cl\u00e1sica (OMIM # 235200) es la forma m\u00e1s com\u00fan de HH y se debe principalmente a la mutaci\u00f3n homocig\u00f3tica…<\/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-236","page","type-page","status-publish","hentry","description-off"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/236","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=236"}],"version-history":[{"count":11,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/236\/revisions"}],"predecessor-version":[{"id":2595,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/236\/revisions\/2595"}],"wp:attachment":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/media?parent=236"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}