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":240,"date":"2017-01-30T14:18:39","date_gmt":"2017-01-30T14:18:39","guid":{"rendered":"http:\/\/bloodgenetics.com\/?page_id=240"},"modified":"2023-12-07T14:48:19","modified_gmt":"2023-12-07T14:48:19","slug":"panel-anemias-hemoliticas-hereditarias-debidas-enzimopatias-los-globulos-rojos-enfermedad-almacenamiento-glucogeno-codigo-10061","status":"publish","type":"page","link":"https:\/\/bloodgenetics.com\/panel-anemias-hemoliticas-hereditarias-debidas-enzimopatias-los-globulos-rojos-enfermedad-almacenamiento-glucogeno-codigo-10061\/","title":{"rendered":"Panel de Anemias hemol\u00edticas hereditarias debidas a enzimopat\u00edas de los gl\u00f3bulos rojos o enfermedad de almacenamiento de gluc\u00f3geno (C\u00f3digo 10061)"},"content":{"rendered":"

[vc_row type=”vc_default” bg_type=”bg_color” bg_override=”full” css=”.vc_custom_1495359593391{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 Paneles NGS
\nPanel de Anemias hemol\u00edticas hereditarias debidas a enzimopat\u00edas de los gl\u00f3bulos rojos o enfermedad de almacenamiento de gluc\u00f3geno (C\u00f3digo 10061)
\n<\/strong><\/p>\n

Los gl\u00f3bulos rojos tienen un metabolismo anaer\u00f3bico activo usando la glucosa como fuente de energ\u00eda. Las principales funciones metab\u00f3licas incluyen el mantenimiento de prote\u00ednas de membrana, la preservaci\u00f3n del hierro de hemoglobina en el estado Fe3 + y la modulaci\u00f3n de la afinidad de la hemoglobina por ox\u00edgeno. Estas funciones necesitan la regulaci\u00f3n de cuatro componentes: ATP, NADH, NADPH, y 2,3 diphosphoglycerate. Los defectos enzim\u00e1ticos en estas v\u00edas producen anemias hemol\u00edticas hereditarias debidas a enzimopat\u00edas de los gl\u00f3bulos rojos o enfermedad de almacenamiento de gluc\u00f3geno. Los defectos enzim\u00e1ticos comunes incluyen deficiencia de piruvato quinasa (PK) y glucosa 6-fosfato deshidrogenasa (G6PD). Los defectos en otras enzimas son menos frecuentes y entre ellos se inlcuye la deficiencia de hexokinasa, deficiencia de glucosa fosfato isomerasa, deficiencia de difosfoglicerato mutasa, deficiencia de glutation reductasa, deficiencia de glutation sintetasa, deficiencia de glutation peroxidase, deficiencia de gamma-glutamilciste\u00edna sintetasa, deficiencia de pirimidina 5′ nucleotidasa, deficiencia de adenilato kinasa 1, deficiencia de fosfoglicerato kinasa 1, deficiencia de triosafosfato isomerasa 1, la enfermedad de almacenamiento de gluc\u00f3geno por deficiencia de fosfofructo kinasa,\u00a0 la enfermedad de almacenamiento de gluc\u00f3geno por deficiencia de aldolasa A, la sobreproducci\u00f3n de adenosina deaminasa en eritrocitos y la metahemoglobinemia hereditaria recesiva tipo 1 y tipo 2.<\/p>\n

 <\/p>\n

La deficiencia de G6PD produce hem\u00f3lisis en respuesta al estr\u00e9s oxidativo como drogas, deshidrataci\u00f3n y fiebre\/infecci\u00f3n, mientras que la deficiencia de PK se caracteriza por una hem\u00f3lisis continua debido a su actividad en la v\u00eda glicol\u00edtica anaer\u00f3bica principal.<\/p>\n

 <\/p>\n

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

\u00a0<\/strong><\/p>\n

    \n
  • Koralkova P, van Solinge WW, van Wijk R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia – pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol. 36(3):388-97, 2014. [PubMed: 24750686]\u00b7\u00a0\u00a0\u00a0 Arya R, Layton DM, Bellingham AJ. Hereditary red cell enzymopathies. Blood Rev. 9(3):165-75, 1995. Review. [PubMed: 8563518]\u00b7\u00a0\u00a0\u00a0 Valentine WN, Tanaka KR, Paglia DE. Hemolytic anemias and erythrocyte enzymopathies. Ann Intern Med. 103(2):245-57, 1985. [PubMed: 2990276]\u00b7\u00a0\u00a0\u00a0 Travis SF. Red cell enzymopathies in the newborn. II. Inherited deficiencies of red cell enzymes. Ann Clin Lab Sci. 12(3):163-77, 1982. [PubMed: 6284015]<\/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_1495359593391{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 Paneles NGS Panel de Anemias hemol\u00edticas hereditarias debidas a enzimopat\u00edas de los gl\u00f3bulos rojos o enfermedad de almacenamiento de gluc\u00f3geno (C\u00f3digo 10061) Los gl\u00f3bulos rojos tienen un metabolismo anaer\u00f3bico activo usando la glucosa como fuente de energ\u00eda. Las principales funciones metab\u00f3licas…<\/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-240","page","type-page","status-publish","hentry","description-off"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/240","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=240"}],"version-history":[{"count":8,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/240\/revisions"}],"predecessor-version":[{"id":1747,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/240\/revisions\/1747"}],"wp:attachment":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/media?parent=240"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}